ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.19276G>C (p.Gly6426Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003393485 SCV004134296 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing SYNE2: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV005100028 SCV005763390 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 6426 of the SYNE2 protein (p.Gly6426Arg). This variant is not present in population databases (gnomAD no frequency). 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: 2644311). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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