ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)

dbSNP: rs1847020598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236607 SCV001409339 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 950 of the SETX protein (p.Ser950Tyr). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SETX-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002436925 SCV002749845 uncertain significance Inborn genetic diseases 2019-09-27 criteria provided, single submitter clinical testing The p.S950Y variant (also known as c.2849C>A), located in coding exon 8 of the SETX gene, results from a C to A substitution at nucleotide position 2849. The serine at codon 950 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well 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.
Genome-Nilou Lab RCV003234010 SCV003931490 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234011 SCV003931491 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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