ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)

gnomAD frequency: 0.00002  dbSNP: rs531503159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044275 SCV002109963 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-09 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1348358). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs531503159, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 3499 of the SYNE1 protein (p.Arg3499Cys).
Athena Diagnostics RCV002473308 SCV002771408 uncertain significance not provided 2022-01-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002473308 SCV004237936 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing

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