ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)

gnomAD frequency: 0.00001  dbSNP: rs145345675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816518 SCV002063264 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541948 SCV002976488 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-04-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001816518 SCV005410839 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733382 SCV005355709 uncertain significance SETX-related disorder 2024-07-23 no assertion criteria provided clinical testing The SETX c.7720G>A variant is predicted to result in the amino acid substitution p.Glu2574Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian 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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