ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)

gnomAD frequency: 0.00046  dbSNP: rs146668256
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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) RCV000174412 SCV000225708 uncertain significance not provided 2014-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237264 SCV001410018 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 333 of the SYNE1 protein (p.Trp333Arg). This variant is present in population databases (rs146668256, gnomAD 0.1%). 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: 194125). 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: "Probably 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 RCV000174412 SCV003824640 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998370 SCV005621887 likely benign not specified 2024-06-11 criteria provided, single submitter clinical testing

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