ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1750C>G (p.Leu584Val)

gnomAD frequency: 0.00004  dbSNP: rs764995848
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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 RCV000705240 SCV000834229 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-06-07 criteria provided, single submitter clinical testing
GeneDx RCV001759414 SCV001988425 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing Reported previously in a patient with familial ALS; however, additional clinical and segregation information was not provided (Cooper-Knock et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18058631, 29170628)
Ambry Genetics RCV002397476 SCV002711642 uncertain significance Inborn genetic diseases 2023-03-16 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.

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