ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) (rs61760904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080292 SCV000629007 benign Noonan syndrome 2020-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590808 SCV000698694 benign not provided 2017-04-11 criteria provided, single submitter clinical testing Variant summary: The RRAS c.397G>A (p.Asp133Asn) variant involves the alteration of a conserved nucleotide, resulting in missense change. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 605/121088 control chromosomes (including one homozygote) from ExAC at a frequency of 0.0049964, which is approximately 1999 times the estimated maximal expected allele frequency of a pathogenic RRAS variant (0.0000025), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449781 SCV001653057 benign not specified 2018-12-28 criteria provided, single submitter clinical testing p.Asp133Asn in exon 4 of RRAS: This variant is not expected to have clinical significance because it has been identified in 0.84% (558/66576) of European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs61760904).

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