ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.399A>G (p.Ser133=) (rs397507463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033275 SCV000057180 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779847 SCV000916698 benign not specified 2018-03-20 criteria provided, single submitter clinical testing Variant summary: BRAF c.399A>G alters a conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within Ashkenazi Jewish control individuals in the gnomAD database is approximately 840 fold of the estimated maximal expected allele frequency for a pathogenic variant in BRAF causing Noonan Syndrome and Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Ashkenazi Jewish origin. To our knowledge, no occurrence of c.399A>G in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. One laboratory classified the variant as benign/likely benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000033275 SCV001003704 likely benign Rasopathy 2020-02-07 criteria provided, single submitter clinical testing

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