Submissions for variant NM_005343.4(HRAS):c.330C>T (p.Pro110=)

gnomAD frequency: 0.00011  dbSNP: rs200747280

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038457	SCV000062130	likely benign	not specified	2012-01-30	criteria provided, single submitter	clinical testing	Pro110Pro in exon 4 of HRAS: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and it has been identified in <0.1% (2/3738) of Af rican American chromosomes by the NHLBI Exome sequencing project in a broad popu lation (http://evs.gs.washington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467667	SCV000560904	likely benign	Costello syndrome	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000038457	SCV000728562	benign	not specified	2017-03-24	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038457	SCV001737895	benign	not specified	2021-06-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813351	SCV002060512	likely benign	Noonan syndrome and Noonan-related syndrome	2021-03-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321512	SCV002605675	likely benign	Cardiovascular phenotype	2022-07-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002490523	SCV002799814	likely benign	Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2	2021-07-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739326	SCV005366041	likely benign	HRAS-related disorder	2024-03-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).