ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.212A>G (p.Asn71Ser) (rs184022679)

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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 RCV000461248 SCV000616420 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.212A>G (p.Asn71Ser) variant in the RAF1 gene is 0.14% for Latino chromosomes by the Exome Aggregation Consortium (24/11578 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 RCV000037686 SCV000061348 uncertain significance not specified 2013-01-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn71Ser varian t in RAF1 has not been previously reported in the literature nor previously been identified by our laboratory. This variant has been identified in 0.01% (1/8600 ) of European American chromosomes from a broad population by the NHLBI Exome Se quencing Project (; dbSNP rs184022679). Computa tional analyses (biochemical amino acid properties, conservation, AlignGVGD, Pol yPhen2, and SIFT) suggest that the Asn71Ser variant may not impact the normal fu nction of the protein, though this information is not predictive enough to rule out pathogenicity. Of note, the Shrew (a species in the Mammalian class) also ca rries a serine (Ser) at amino acid position 71 in the RAF1 gene. In summary, add itional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV000586687 SCV000209004 benign not provided 2016-06-06 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.
Invitae RCV000461248 SCV000562250 likely benign Rasopathy 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586687 SCV000698125 likely benign not provided 2016-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620637 SCV000740074 benign Cardiovascular phenotype 2017-12-28 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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