ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)

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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 RCV002342956 SCV002642300 uncertain significance Inborn genetic diseases 2021-12-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776010 SCV004579732 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529133 SCV004105963 uncertain significance SETX-related disorder 2024-05-08 no assertion criteria provided clinical testing The SETX c.4991C>T variant is predicted to result in the amino acid substitution p.Pro1664Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) 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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