ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn)

gnomAD frequency: 0.00001  dbSNP: rs188953744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000344365 SCV000334627 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647549 SCV000769345 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-05-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs188953744, gnomAD 0.006%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 282895). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 5287 of the SYNE2 protein (p.Asp5287Asn).
Revvity Omics, Revvity RCV000647549 SCV003820844 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-04-02 criteria provided, single submitter clinical testing

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