ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3772A>G (p.Thr1258Ala)

gnomAD frequency: 0.00054  dbSNP: rs144579834
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001483366 SCV001687756 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037238 SCV004946813 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.3772A>G (p.T1258A) alteration is located in exon 32 (coding exon 31) of the SI gene. This alteration results from a A to G substitution at nucleotide position 3772, causing the threonine (T) at amino acid position 1258 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003946263 SCV004759187 uncertain significance SI-related disorder 2023-12-11 no assertion criteria provided clinical testing The SI c.3772A>G variant is predicted to result in the amino acid substitution p.Thr1258Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.18% of alleles in individuals of African descent in gnomAD, which may be too high to be causative of disease. Although we suspect that this variant may be benign, 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.