ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)

gnomAD frequency: 0.00002  dbSNP: rs730881018
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519096 SCV000616492 likely benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.38A>C (p.Glu13Ala) variant in the SHOC2 gene is 0.0484% (10/11206) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
GeneDx RCV000159108 SCV000209052 benign not provided 2016-06-06 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.
Eurofins Ntd Llc (ga) RCV000159108 SCV000859601 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000519096 SCV001129609 likely benign RASopathy 2024-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286466 SCV001473041 likely benign Noonan syndrome-like disorder with loose anagen hair 1 2020-07-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001286466 SCV002799128 likely benign Noonan syndrome-like disorder with loose anagen hair 1 2021-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917545 SCV004730189 likely benign SHOC2-related disorder 2020-08-04 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.