ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.225C>T (p.Gly75=) (rs142739534)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154799 SCV000204479 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gly75Gly in Exon 03 of NRAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.3% (10/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs142739534).
GeneDx RCV000154799 SCV000208915 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000320449 SCV000347396 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000157673 SCV000563314 benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000157673 SCV000697987 benign not provided 2017-04-10 criteria provided, single submitter clinical testing Variant summary: The c.225C>T (p.Gly75=) in NRAS gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant creates a new donor cryptic site, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.0003871 (47/121410 chrs tested), predominantly in individuals of African descent (0.003748; 39/10406 chrs tested, including 1 homozygous occurrence). These frequencies exceed the estimated maximal expected allele frequency of a pathogenic variant in NRAS gene (0.0000025). The variant was cited as VUS/Likely Benign by a reputable database/clinical laboratory. Based on the prevalence in the general population the variant was classified as Benign.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000157673 SCV000207644 uncertain significance not provided 2015-01-15 no assertion criteria provided clinical testing

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