ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)

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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 RCV002322805 SCV002608045 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The p.K1063E variant (also known as c.3187A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 3187. The lysine at codon 1063 is replaced by glutamic acid, 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 RCV003099274 SCV003014852 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-07-25 criteria provided, single submitter clinical testing

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