ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln)

gnomAD frequency: 0.00002  dbSNP: rs764036360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647537 SCV000769333 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2249 of the SYNE2 protein (p.Arg2249Gln). This variant is present in population databases (rs764036360, gnomAD 0.006%). 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: 538326). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004025741 SCV003527549 likely benign not specified 2022-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000647537 SCV003820859 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-09-07 criteria provided, single submitter clinical testing

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