ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.172C>T (p.His58Tyr)

gnomAD frequency: 0.00001  dbSNP: rs757760067
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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 RCV000516965 SCV000615162 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Invitae RCV001049138 SCV001213172 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404330 SCV002712528 uncertain significance Inborn genetic diseases 2019-12-06 criteria provided, single submitter clinical testing The p.H58Y variant (also known as c.172C>T), located in coding exon 1 of the SETX gene, results from a C to T substitution at nucleotide position 172. The histidine at codon 58 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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