ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)

dbSNP: rs988770583
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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 RCV001962904 SCV002232535 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive spinocerebellar ataxia (PMID: 31103315). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1519*) in the SYNE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 19542096, 24319099, 27086870). ClinVar contains an entry for this variant (Variation ID: 1454968). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002246618 SCV002519836 pathogenic Autosomal recessive ataxia, Beauce type 2022-05-04 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV002246618 SCV005091483 likely pathogenic Autosomal recessive ataxia, Beauce type 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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