ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001031001 SCV001160788 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-12-11 criteria provided, single submitter research ACMG evidence PS2, PM2, PP2, PP3
Invitae RCV001031001 SCV001396292 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2019-07-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 983 of the SMC1A protein (p.Tyr983Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMC1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
