ClinVar Miner

Submissions for variant NM_001166271.3(SPATA13):c.2710G>A (p.Val904Ile)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004111148 SCV003576562 uncertain significance not specified 2021-07-14 criteria provided, single submitter clinical testing The c.2710G>A (p.V904I) alteration is located in exon 8 (coding exon 7) of the SPATA13 gene. This alteration results from a G to A substitution at nucleotide position 2710, causing the valine (V) at amino acid position 904 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003953986 SCV004767566 likely benign SPATA13-related disorder 2019-12-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.