ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)

gnomAD frequency: 0.00003  dbSNP: rs371541705
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752398 SCV001997236 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002329733 SCV002631002 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.4291C>G (p.P1431A) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a C to G substitution at nucleotide position 4291, causing the proline (P) at amino acid position 1431 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002540427 SCV003513186 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234111 SCV003931388 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234112 SCV003931390 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528530 SCV004105355 uncertain significance SETX-related disorder 2022-11-29 criteria provided, single submitter clinical testing The SETX c.4291C>G variant is predicted to result in the amino acid substitution p.Pro1431Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135202694-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.