ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)

dbSNP: rs794727986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180749 SCV000233235 pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266189 SCV001444361 pathogenic Inborn genetic diseases 2018-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537518 SCV004121224 pathogenic SYNE1-related disorder 2022-11-15 criteria provided, single submitter clinical testing The SYNE1 c.17603_17607del5 variant is predicted to result in a frameshift and premature protein termination (p.Asp5868Alafs*13). This variant has been reported in a family with cerebellar ataxia (Reported as 334338-334342delATTTG in Gros-Louis et al 2007. PubMed ID: 17159980). This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152615124-GCAAAT-G). Frameshift variants in SYNE1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005213222 SCV005855161 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp5868Alafs*13) 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 (rs794727986, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of spinocerebellar ataxia (PMID: 17159980, 34816117). This variant is also known as 334338-334342delATTTG and c.17816_17820del (p.Asp5939Alafs*13). ClinVar contains an entry for this variant (Variation ID: 199228). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002271991 SCV000022576 pathogenic Autosomal recessive ataxia, Beauce type 2007-01-01 no assertion criteria provided literature only

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