ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val)

dbSNP: rs555792275
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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 RCV001222446 SCV001394544 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs555792275, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 7564 of the SYNE1 protein (p.Ala7564Val). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 950685).
Revvity Omics, Revvity RCV003142179 SCV003822725 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing

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