ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1113T>C (p.Asp371=)

gnomAD frequency: 0.00002  dbSNP: rs146668293
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV001084681 SCV001335318 likely benign RASopathy 2020-03-09 reviewed by expert panel curation The c.1113T>C (p.Asp371=) is present in 7/1113684 European alleles (MAF 2.88e-05, 95% CI) gnomAD v2.1.1. Sixteen apparently unaffected parental samples involved in whole exome testing were observed with this variant supporting that this variant is likely benign; however, this evidence does not meet current scoring criteria for BS2 at this time (BS2 not met; SCV000515669.4). This variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the p.Asp371= variant does not impact the protein (BP4). In summary, the clinical significance of the p.Asp371= variant is likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP4.
GeneDx RCV000157688 SCV000515669 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618075 SCV000736067 likely benign Cardiovascular phenotype 2017-10-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084681 SCV001010386 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505186 SCV002805470 likely benign LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN 2021-07-26 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000157688 SCV000207672 uncertain significance not provided 2015-01-15 no assertion criteria provided clinical testing

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