ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.863C>T (p.Ala288Val)

gnomAD frequency: 0.00001  dbSNP: rs746752458
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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 RCV001927300 SCV002166929 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-06-30 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs746752458, ExAC 0.003%). This sequence change replaces alanine with valine at codon 295 of the SYNE1 protein (p.Ala295Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.
PreventionGenetics, part of Exact Sciences RCV004529037 SCV004112348 uncertain significance SYNE1-related disorder 2023-05-10 criteria provided, single submitter clinical testing The SYNE1 c.884C>T variant is predicted to result in the amino acid substitution p.Ala295Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152823793-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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