ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)

gnomAD frequency: 0.00003  dbSNP: rs375917264
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310394 SCV000338253 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000819014 SCV000959654 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 81 of the SYNE1 protein (p.Arg81Cys). This variant is present in population databases (rs375917264, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285295). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV000310394 SCV003825333 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147441 SCV003835771 uncertain significance Arthrogryposis multiplex congenita 3, myogenic type 2021-03-10 criteria provided, single submitter clinical testing

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