Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
RCV000820134 | SCV000960830 | likely benign | RASopathy | 2023-02-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
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. |