ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.93A>G (p.Gln31=)

gnomAD frequency: 0.00006  dbSNP: rs201795631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557520 SCV000645297 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377107 SCV002688753 likely benign Inborn genetic diseases 2019-07-11 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.
PreventionGenetics, part of Exact Sciences RCV004527650 SCV004110573 uncertain significance SETX-related disorder 2023-02-07 criteria provided, single submitter clinical testing The SETX c.93A>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to generate a cryptic splice acceptor site within exon 3 (Alamut Visual Plus v1.6.1); however, in silico predictions are imperfect and not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. It is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135224723-T-C). 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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