ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)

gnomAD frequency: 0.00001  dbSNP: rs759545112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288405 SCV001475486 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327624 SCV002632564 uncertain significance Inborn genetic diseases 2020-01-27 criteria provided, single submitter clinical testing The p.A1478T variant (also known as c.4432G>A), located in coding exon 8 of the SETX gene, results from a G to A substitution at nucleotide position 4432. The alanine at codon 1478 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002537972 SCV003477789 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-20 criteria provided, single submitter clinical testing

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