ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met)

gnomAD frequency: 0.00001  dbSNP: rs767422903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730953 SCV000858721 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
Invitae RCV002535182 SCV003494252 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-07 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: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 595418). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 6903 of the SYNE1 protein (p.Val6903Met).

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