ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)

gnomAD frequency: 0.00001  dbSNP: rs1464985103
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
Genetic Services Laboratory, University of Chicago RCV001819484 SCV002068508 likely benign not specified 2019-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671449 SCV005171492 uncertain significance Inborn genetic diseases 2024-03-16 criteria provided, single submitter clinical testing The c.3986C>T (p.S1329L) alteration is located in exon 21 (coding exon 21) of the SHANK3 gene. This alteration results from a C to T substitution at nucleotide position 3986, causing the serine (S) at amino acid position 1329 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004542126 SCV004778780 uncertain significance SHANK3-related disorder 2024-01-23 no assertion criteria provided clinical testing The SHANK3 c.3986C>T variant is predicted to result in the amino acid substitution p.Ser1329Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of East Asian descent in gnomAD. 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.