ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.408C>T (p.Pro136=) (rs114187560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084941 SCV000629008 benign Noonan syndrome 2020-11-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588533 SCV000698696 benign not provided 2017-04-11 criteria provided, single submitter clinical testing Variant summary: The RRAS c.408C>T (p.Pro136Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 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 and SC35. These predictions have yet to be confirmed by functional studies. This variant was found in 132/121062 control chromosomes from ExAC, predominantly observed in the African subpopulation at a frequency of 0.010667 (110/10312). This frequency is about 4267 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 African 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.

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