ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.968G>A (p.Ser323Asn)

gnomAD frequency: 0.00019  dbSNP: rs372193033
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644822 SCV000766537 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001644729 SCV000843820 likely benign not specified 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369707 SCV002690551 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003424222 SCV004156619 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing SETX: PM2
GeneDx RCV003424222 SCV004170727 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing Previously reported in an individual with apparently sporadic ALS, who also harbored a variant in a different gene associated with ALS (PMID: 25382069); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25869998, 29605155, 25382069)
Mayo Clinic Laboratories, Mayo Clinic RCV003424222 SCV005410859 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing BP4, PM2_moderate
PreventionGenetics, part of Exact Sciences RCV004732984 SCV005351305 uncertain significance SETX-related disorder 2024-09-21 no assertion criteria provided clinical testing The SETX c.968G>A variant is predicted to result in the amino acid substitution p.Ser323Asn. This variant was reported in two individuals with amyotrophic lateral sclerosis, with one individual also harboring a missense variant in DCTN1 (Cady et al. 2015. PubMed ID: 25382069, Table 2 and Table 4). This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has conflicting interpretations of pathogenicity in ClinVar ranging from likely benign to uncertain significance (http://www.ncbi.nlm.nih.gov/clinvar/variation/536383/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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