ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.424C>T (p.Pro142Ser)

gnomAD frequency: 0.00001  dbSNP: rs780855590
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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 RCV001912440 SCV002158966 uncertain significance Facioscapulohumeral muscular dystrophy 2 2021-08-15 criteria provided, single submitter clinical testing 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SMCHD1-related conditions. This variant is present in population databases (rs780855590, ExAC 0.01%). This sequence change replaces proline with serine at codon 142 of the SMCHD1 protein (p.Pro142Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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