ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004783939 SCV005397251 uncertain significance Noonan syndrome 6 2022-05-20 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) at coding position 457 of the NRAS gene which results in a glutamic acid to lysine amino acid change at residue 153 in the NRAS protein. While this variant has not been observed in the literature as a germline variant in patients with NRAS-related disease, it has been reported in an individual with Noon syndrome (ClinVar). This variant is absent from the gnomAD control population dataset (0/~251400 alleles). Multiple bioinformatic tools predict that this glutamic acid to lysine change will be damaging, and glutamic acid is highly conserved at this position in vertebrates. At this time, there is insufficient information to determine if this variant is benign or pathogenic. Therefore, we consider it to be a variant of uncertain significance. ACMG Criteria: PM2, PP2, PP3
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261092 SCV001438494 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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