ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002948223 SCV003274572 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536475 SCV004116312 uncertain significance SETX-related disorder 2023-04-10 criteria provided, single submitter clinical testing The SETX c.2416G>A variant is predicted to result in the amino acid substitution p.Asp806Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135204569-C-T). 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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