ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1980A>G (p.Glu660=)

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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 RCV002807159 SCV003195467 uncertain significance Facioscapulohumeral muscular dystrophy 2 2023-10-10 criteria provided, single submitter clinical testing This sequence change affects codon 660 of the SMCHD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMCHD1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1996973). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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