ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr)

gnomAD frequency: 0.00002  dbSNP: rs750841362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952176 SCV002196785 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 8010 of the SYNE1 protein (p.Met8010Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs750841362, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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 tolerated. 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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