ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)

gnomAD frequency: 0.00004  dbSNP: rs200521548
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239296 SCV000297252 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726281 SCV000343442 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726281 SCV001151447 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045423 SCV001209273 uncertain significance Facioscapulohumeral muscular dystrophy 2 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 88 of the SMCHD1 protein (p.Asp88Gly). This variant is present in population databases (rs200521548, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with fascioscapulohumeral muscular dystrophy (PMID: 31243061). ClinVar contains an entry for this variant (Variation ID: 252695). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000239296 SCV001984434 uncertain significance not specified 2020-08-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726281 SCV003821928 uncertain significance not provided 2020-05-26 criteria provided, single submitter clinical testing

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