ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp)

dbSNP: rs6913579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993207 SCV001146010 uncertain significance not provided 2018-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550656 SCV003512860 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 3172 of the SYNE1 protein (p.Glu3172Asp). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 805590). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs6913579, gnomAD 0.004%).
CeGaT Center for Human Genetics Tuebingen RCV000993207 SCV004160583 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing SYNE1: PM2, BP4

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