Submissions for variant NM_001085049.3(MRAS):c.-7G>A

dbSNP: rs368097379

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001532914	SCV001748714	uncertain significance	not specified	2021-06-28	criteria provided, single submitter	clinical testing	Variant summary: MRAS c.-7G>A is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 2.8e-05 in 178454 control chromosomes, predominantly at a frequency of 4.5e-05 within the Non-Finnish European subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-7G>A in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV003956221	SCV004776299	likely benign	MRAS-related disorder	2020-09-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).