ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)

gnomAD frequency: 0.00006  dbSNP: rs149081144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038319 SCV002317387 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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: 1519535). This variant is present in population databases (rs149081144, gnomAD 0.008%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 4473 of the SYNE1 protein (p.Asp4473Ala).
Athena Diagnostics RCV002473351 SCV002771417 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002473351 SCV003824666 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing

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