ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)

gnomAD frequency: 0.00005  dbSNP: rs772622270
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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 RCV001222895 SCV001395017 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-09-13 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 8030 of the SYNE1 protein (p.Arg8030Cys). This variant is present in population databases (rs772622270, gnomAD 0.0009%). 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: 951061). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002484209 SCV002780419 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2021-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142181 SCV003825235 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing

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