ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)

gnomAD frequency: 0.00008  dbSNP: rs140567583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797895 SCV000937481 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 6268 of the SYNE1 protein (p.Tyr6268Asp). This variant is present in population databases (rs140567583, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 644055). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
GeneDx RCV002473141 SCV002770163 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV002473141 SCV003822801 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing

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