ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)

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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 RCV002632534 SCV003503575 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-12-22 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 tolerated. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs769911507, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 6301 of the SYNE1 protein (p.Ala6301Ser).
Revvity Omics, Revvity RCV003138535 SCV003826341 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing

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