ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)

gnomAD frequency: 0.00002  dbSNP: rs376589639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227326 SCV001399679 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2021-09-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs376589639, ExAC 0.01%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SMC1A-related conditions. This sequence change replaces serine with leucine at codon 882 of the SMC1A protein (p.Ser882Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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