ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.931A>T (p.Ile311Leu)

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 RCV002993498 SCV003292657 likely benign not provided 2024-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002985715 SCV003716141 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.931A>T (p.I311L) alteration is located in exon 9 (coding exon 8) of the SPTBN4 gene. This alteration results from a A to T substitution at nucleotide position 931, causing the isoleucine (I) at amino acid position 311 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002993498 SCV005386324 uncertain significance not provided 2024-02-24 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

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.