ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.392G>A (p.Arg131His)

dbSNP: rs781903928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059173 SCV001223786 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2019-03-18 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine with histidine at codon 131 of the SMC1A protein (p.Arg131His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs781903928, ExAC 0.01%). 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: "Benign"; Align-GVGD: "Class C0").

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