ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr)

gnomAD frequency: 0.00001  dbSNP: rs1392726878
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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 RCV001996820 SCV002223295 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-18 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.06%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 27066551). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 503 of the SYNE1 protein (p.Ser503Thr).

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