ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly)

gnomAD frequency: 0.00002  dbSNP: rs370851746
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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) RCV000396975 SCV000344595 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV001070139 SCV001235352 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 23 of the SYNE1 protein (p.Asp23Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs370851746, ExAC 0.006%). 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: 290100). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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