ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) (rs397516907)

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Total submissions: 3
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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, Partners HealthCare 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 2016-06-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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