ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003349353 SCV004051888 likely benign Inborn genetic diseases 2023-06-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777511 SCV004594940 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538949 SCV004120484 uncertain significance SETX-related disorder 2024-08-11 no assertion criteria provided clinical testing The SETX c.2648A>G variant is predicted to result in the amino acid substitution p.Asn883Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD. 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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