ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3778A>G (p.Ile1260Val)

gnomAD frequency: 0.00001  dbSNP: rs191410697
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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 RCV001878722 SCV002128814 uncertain significance Facioscapulohumeral muscular dystrophy 2 2023-07-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs191410697, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1260 of the SMCHD1 protein (p.Ile1260Val). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SMCHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1370891).

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