ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)

gnomAD frequency: 0.00008  dbSNP: rs147705644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365341 SCV001561607 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404871 SCV002669486 likely benign Inborn genetic diseases 2021-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV003128783 SCV003806229 uncertain significance not provided 2022-08-17 criteria provided, single submitter clinical testing Identified in two patients with adult-onset ALS, one of whom also harbored a variant in the ALS2 gene (Kenna et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28413711, Kitao R. 2020, 23881933)
Revvity Omics, Revvity RCV003128783 SCV003827513 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing

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