ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)

gnomAD frequency: 0.00006  dbSNP: rs763615170
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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 RCV001038867 SCV001202366 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-04-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs763615170, gnomAD 0.01%). 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: 837512). 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: "Benign"; Align-GVGD: "Class C45"). 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. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2500 of the SYNE1 protein (p.Asn2500Ser).
Revvity Omics, Revvity RCV003141951 SCV003825196 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing

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