ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)

gnomAD frequency: 0.00002  dbSNP: rs886041231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000275940 SCV000329482 uncertain significance not provided 2024-06-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000820134 SCV000960830 likely benign RASopathy 2023-02-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001249756 SCV001423789 uncertain significance Noonan syndrome 2019-12-05 criteria provided, single submitter clinical testing The RAF1 c.917C>T (p.Ser306Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000116 in the Latino population of the Genome Aggregation Database. Noonan syndrome is associated with variable expressivity and mild expression can be overlooked. Based on the limited evidence, the p.Ser306Leu variant is classified as a variant of unknown significance for Noonan syndrome.
Ambry Genetics RCV003162288 SCV003860210 uncertain significance Cardiovascular phenotype 2024-08-15 criteria provided, single submitter clinical testing The c.917C>T (p.S306L) alteration is located in exon 9 (coding exon 8) of the RAF1 gene. This alteration results from a C to T substitution at nucleotide position 917, causing the serine (S) at amino acid position 306 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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