ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.3483A>T (p.Arg1161Ser)

dbSNP: rs1477737151
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001543127 SCV001761646 uncertain significance Ataxia-pancytopenia syndrome 2021-07-26 criteria provided, single submitter clinical testing The SAMD9L c.3483A>T (p.Arg1161Ser) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). Seven of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with ataxia-pancytopenia syndrome. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, BP4.
PreventionGenetics, part of Exact Sciences RCV004536167 SCV004120950 uncertain significance SAMD9L-related disorder 2023-02-28 criteria provided, single submitter clinical testing The SAMD9L c.3483A>T variant is predicted to result in the amino acid substitution p.Arg1161Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004952974 SCV005499865 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The p.R1161S variant (also known as c.3483A>T), located in coding exon 1 of the SAMD9L gene, results from an A to T substitution at nucleotide position 3483. The arginine at codon 1161 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.