ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.43A>T (p.Ile15Phe)

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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 RCV002333717 SCV002633321 uncertain significance Inborn genetic diseases 2020-11-03 criteria provided, single submitter clinical testing The p.I15F variant (also known as c.43A>T), located in coding exon 1 of the SETX gene, results from an A to T substitution at nucleotide position 43. The isoleucine at codon 15 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV003102579 SCV003514636 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-06-08 criteria provided, single submitter clinical testing
GeneDx RCV004779303 SCV005388783 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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