ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)

dbSNP: rs1568260824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695654 SCV000824166 uncertain significance Facioscapulohumeral muscular dystrophy 2 2018-05-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SMCHD1-related disease. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with phenylalanine at codon 1050 of the SMCHD1 protein (p.Ile1050Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine.
Revvity Omics, Revvity RCV003489818 SCV004237613 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing

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