ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)

dbSNP: rs587784405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147551 SCV000194998 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000147551 SCV001412947 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2019-10-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SMC1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 159941). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 486 of the SMC1A protein (p.Asp486Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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.

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