ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)

gnomAD frequency: 0.00022  dbSNP: rs138195434
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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 RCV001298212 SCV001487258 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341587 SCV002639780 uncertain significance Inborn genetic diseases 2020-12-16 criteria provided, single submitter clinical testing The p.D1507A variant (also known as c.4520A>C), located in coding exon 8 of the SETX gene, results from an A to C substitution at nucleotide position 4520. The aspartic acid at codon 1507 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of juvenile amyotrophic lateral sclerosis 4; however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 is uncertain.
Breakthrough Genomics, Breakthrough Genomics RCV004692431 SCV005190540 uncertain significance not provided criteria provided, single submitter not provided

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