ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)

gnomAD frequency: 0.00001  dbSNP: rs763325410
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519943 SCV000618260 likely pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing The R6979X variant has been previously reported in an individual with cerebellar ataxia who harbored an additional SYNE1 nonsense variant (Synofzik et al., 2016). The R6979X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814183 SCV001755478 pathogenic Abnormal central motor function 2021-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000787307 SCV005049729 pathogenic Autosomal recessive ataxia, Beauce type 2024-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005222991 SCV005866098 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg6979*) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with SYNE1-related conditions (PMID: 27086870). ClinVar contains an entry for this variant (Variation ID: 449831). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000787307 SCV000926244 pathogenic Autosomal recessive ataxia, Beauce type 2019-07-11 no assertion criteria provided literature only

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