ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)

gnomAD frequency: 0.00002  dbSNP: rs376102438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544842 SCV000649140 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-16 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 471035). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs376102438, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 8131 of the SYNE1 protein (p.Arg8131His).
Undiagnosed Diseases Network, NIH RCV001526456 SCV001736872 uncertain significance Autosomal recessive ataxia, Beauce type 2020-11-17 criteria provided, single submitter clinical testing

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