ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8885del (p.Val2962fs)

dbSNP: rs750544827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713693 SCV000844320 pathogenic not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV003768112 SCV004577228 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2969Glyfs*15) 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 (rs750544827, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 586747). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV003884713 SCV004698071 pathogenic Autosomal recessive ataxia, Beauce type 2024-02-19 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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