ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)

gnomAD frequency: 0.00001  dbSNP: rs1300885934
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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 RCV001046075 SCV001209961 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 843446). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser5812*) 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).

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