ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met)

gnomAD frequency: 0.00001  dbSNP: rs577011893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732212 SCV000860135 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535259 SCV003471234 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-02-21 criteria provided, single submitter clinical testing 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 596391). This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. This variant is present in population databases (rs577011893, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 608 of the SMCHD1 protein (p.Ile608Met).
Revvity Omics, Revvity RCV000732212 SCV003821945 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing

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