ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1966G>A (p.Val656Ile)

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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 RCV003789731 SCV004575896 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733642 SCV005349351 uncertain significance SETX-related disorder 2024-05-06 no assertion criteria provided clinical testing The SETX c.1966G>A variant is predicted to result in the amino acid substitution p.Val656Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (as displayed in the table above). However, in gnomAD v4 (available only on GRCh38), this variant is reported in 0.05% of alleles in East Asians, which is higher than expected for the SETX-related disorders. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence.

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