ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.4601T>C (p.Val1534Ala) (rs1555650440)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556706 SCV000638444 uncertain significance Facioscapulohumeral muscular dystrophy 2 2017-09-28 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1534 of the SMCHD1 protein (p.Val1534Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an SMCHD1-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on SMCHD1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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