ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2395C>T (p.His799Tyr)

gnomAD frequency: 0.00002  dbSNP: rs200459144
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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 Inc RCV000517993 SCV000615166 uncertain significance not specified 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV000551603 SCV000645239 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448560 SCV002732420 uncertain significance Inborn genetic diseases 2020-03-25 criteria provided, single submitter clinical testing The p.H799Y variant (also known as c.2395C>T), located in coding exon 8 of the SETX gene, results from a C to T substitution at nucleotide position 2395. The histidine at codon 799 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and tyrosine is the reference amino acid in other 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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