Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001079480 | SCV000629006 | likely benign | Noonan syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588817 | SCV000698693 | benign | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | Variant summary: The RRAS c.379C>T (p.Leu127Leu) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of multiple ESE sites. This variant was found in 95/121076 control chromosomes from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.001247 (83/66560). This frequency is about 499 times the estimated maximal expected allele frequency of a pathogenic RRAS variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as Benign. |
Gene |
RCV000588817 | SCV002008626 | likely benign | not provided | 2020-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004023774 | SCV002625404 | likely benign | not specified | 2022-02-17 | 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. |
Prevention |
RCV003925593 | SCV004744735 | benign | RRAS-related disorder | 2019-05-29 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |