ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)

gnomAD frequency: 0.00001  dbSNP: rs766799310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940484 SCV002187514 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-05-08 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339824 SCV004048557 uncertain significance Amyotrophic lateral sclerosis type 4 criteria provided, single submitter clinical testing The c.5302A>T(p.Asn1768Tyr) missense variant in SETX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn1768Tyr variant is reported with the allele frequency (0.001%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Asn at position 1768 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Asn1768Tyr in SETX is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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