ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys)

dbSNP: rs775456029
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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 RCV001324037 SCV001514976 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-07 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1023919). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs775456029, gnomAD 0.07%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1257 of the SYNE1 protein (p.Ser1257Cys).

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