ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9001C>G (p.Leu3001Val)

gnomAD frequency: 0.00003  dbSNP: rs771518864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233884 SCV001406498 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-03-03 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3001 of the SYNE2 protein (p.Leu3001Val). This variant is present in population databases (rs771518864, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 960371). 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.

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