ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)

gnomAD frequency: 0.00012  dbSNP: rs397516907
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000157821 SCV000616389 benign RASopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.968C>T (p.Ser323Leu) variant in the BRAF gene is 0.06% for South Asian chromosomes by the Exome Aggregation Consortium (17/16512 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037964 SCV000061630 uncertain significance not specified 2012-04-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser323Leu varia nt has not been reported in the literature nor previously identified by our labo ratory. Serine (Ser) at this position is conserved across mammals but not into lower species and computational analyses (biochemical amino acid properties, Pol yPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenic ity. In the absence of additional information, the clinical significance of thi s variant cannot be determined at this time.
GeneDx RCV000680283 SCV000207751 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813341 SCV002060480 likely benign Noonan syndrome and Noonan-related syndrome 2020-08-20 criteria provided, single submitter clinical testing
Invitae RCV000157821 SCV002401791 benign RASopathy 2023-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964854 SCV004776945 benign BRAF-related condition 2021-07-05 criteria provided, single submitter clinical testing This variant is classified as 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.