ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)

dbSNP: rs542032376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003078067 SCV003469366 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-06 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. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs542032376, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2069 of the SYNE1 protein (p.Arg2069His).
Revvity Omics, Revvity RCV003138498 SCV003824655 uncertain significance not provided 2021-07-02 criteria provided, single submitter clinical testing

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