ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.333C>T (p.Asn111=) (rs1865077)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589712 SCV000698691 benign not provided 2017-04-11 criteria provided, single submitter clinical testing Variant summary: The RRAS c.333C>T (p.Asn111Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF. This variant was found in 85345/121332 control chromosomes from ExAC (including 30402 homozygotes) at a frequency of 0.7034006, thus allele T is the major allele at this position. Therefore, this variant is classified as Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195552 SCV001365940 benign not specified 2018-12-28 criteria provided, single submitter clinical testing p.Asn111Asn in exon 3 of RRAS: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 84.20% (9744/11572) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1865077).
Invitae RCV001518485 SCV001727181 benign Noonan syndrome 2020-12-04 criteria provided, single submitter clinical testing

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