ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.407C>T (p.Ala136Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002323102 SCV002626498 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The p.A136V variant (also known as c.407C>T), located in coding exon 3 of the SETX gene, results from a C to T substitution at nucleotide position 407. The alanine at codon 136 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV003094510 SCV003497220 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-06-10 criteria provided, single submitter clinical testing

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