ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.379C>T (p.Leu127=)

gnomAD frequency: 0.00111  dbSNP: rs145907892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001079480 SCV000629006 likely benign Noonan syndrome 2024-01-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
GeneDx 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.
PreventionGenetics, part of Exact Sciences 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).

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