ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn)

gnomAD frequency: 0.00001  dbSNP: rs376684112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352306 SCV000335975 uncertain significance not provided 2015-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855127 SCV002315964 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-09-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3847 of the SYNE2 protein (p.Asp3847Asn). This variant is present in population databases (rs376684112, gnomAD 0.002%). 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: 283704). 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.
Athena Diagnostics RCV000352306 SCV002771340 uncertain significance not provided 2021-09-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001855127 SCV003818202 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-04-11 criteria provided, single submitter clinical testing

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