ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile)

dbSNP: rs778036632
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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 RCV001988937 SCV002283837 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-04-05 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: 1491840). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs778036632, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 7334 of the SYNE1 protein (p.Ser7334Ile).

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