ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)

gnomAD frequency: 0.00001  dbSNP: rs567825753
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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 RCV001899854 SCV002126300 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334755 SCV002643460 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The p.N1657S variant (also known as c.4970A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 4970. The asparagine at codon 1657 is replaced by serine, an amino acid with highly 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.

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