ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.-340_-339GA[1]

dbSNP: rs527774250
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV001030084 SCV001192876 benign RASopathy 2019-11-04 reviewed by expert panel curation The c.-339_-338delAG variant in RAF1 is classified as benign because it has been identified in 0.33579% (95% CI of 63/15050) of non-Finnish European alleles in gnomAD (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). This variant was identified in 4 individuals with Noonan syndrome who carried additional pathogenic variants in PTPN11 sufficient to explain their clinical presentations (BP5). ACMG/AMP Criteria applied: BA1, BP4, BP5, BP7.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151724 SCV000200058 likely benign not specified 2011-12-21 criteria provided, single submitter clinical testing -337_-336delAG in 5'UTR of exon 1 of RAF1: This variant has been identified in o ur laboratory in one individual who is reportedly unaffected with the clinical f eatures of the Noonan spectrum as well as five other probands with Noonan spectr um features who have a pathogenic PTPN11 variant. This variant occurs in the non -coding first exon of the gene. No variants in this region of RAF1 have been sho wn to be pathogenic to date. Therefore, this variant is not expected to have cli nical or pathological significance.
Illumina Laboratory Services, Illumina RCV000339461 SCV000440657 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399170 SCV000440658 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496501 SCV002807078 likely benign LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN 2021-11-08 criteria provided, single submitter clinical testing

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