ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.5686C>G (p.Pro1896Ala)

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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 RCV002755177 SCV003000900 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-01-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1896 of the SMCHD1 protein (p.Pro1896Ala). This variant is present in population databases (rs769617610, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. 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 disruptive.

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