ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)

gnomAD frequency: 0.00002  dbSNP: rs368931174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795164 SCV000934607 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV002272358 SCV002558285 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
MGZ Medical Genetics Center RCV002290435 SCV002580270 uncertain significance Amyotrophic lateral sclerosis type 4 2021-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334477 SCV002635832 uncertain significance Inborn genetic diseases 2021-04-08 criteria provided, single submitter clinical testing The p.K1636E variant (also known as c.4906A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 4906. The lysine at codon 1636 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly 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.

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