ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)

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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 RCV002650721 SCV002982537 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-02-20 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs370030947, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 3991 of the SYNE1 protein (p.Ser3991Asn).

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