ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.2701-4A>G

dbSNP: rs2075029334
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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 RCV001895533 SCV002152476 uncertain significance Facioscapulohumeral muscular dystrophy 2 2021-09-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 21 of the SMCHD1 gene. It does not directly change the encoded amino acid sequence of the SMCHD1 protein. 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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