ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)

gnomAD frequency: 0.00001  dbSNP: rs746452797
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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) RCV000596577 SCV000705245 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV001295973 SCV001484926 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-03 criteria provided, single submitter clinical testing 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 C0"). ClinVar contains an entry for this variant (Variation ID: 499647). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs746452797, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 8486 of the SYNE1 protein (p.Val8486Ala).
GeneDx RCV000596577 SCV001996709 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics Inc RCV000596577 SCV002771439 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing

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