ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.15719C>T (p.Ala5240Val)

gnomAD frequency: 0.00011  dbSNP: rs140863307
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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 RCV002006634 SCV002296820 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-11-16 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. ClinVar contains an entry for this variant (Variation ID: 1506307). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs140863307, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5240 of the SYNE2 protein (p.Ala5240Val).
Fulgent Genetics, Fulgent Genetics RCV002006634 SCV005629403 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-05-24 criteria provided, single submitter clinical testing

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