ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.171T>C (p.Thr57=)

gnomAD frequency: 0.00001  dbSNP: rs751571550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214090 SCV000270778 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing p.Thr57Thr in exon 2 of RAF1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 4/66734 European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs751571550).
GeneDx RCV001711994 SCV001942661 likely benign not provided 2021-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517493 SCV003449541 likely benign RASopathy 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020601 SCV004936056 likely benign Cardiovascular phenotype 2021-02-23 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.

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