ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala)

gnomAD frequency: 0.00005  dbSNP: rs768411950
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521093 SCV000616496 likely benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.613A>G (p.Thr205Ala) variant in the SHOC2 gene is 0.0328% (10/16502) of South Asian 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)
Ambry Genetics RCV004984937 SCV005498133 uncertain significance Cardiovascular phenotype 2024-09-08 criteria provided, single submitter clinical testing The p.T205A variant (also known as c.613A>G), located in coding exon 1 of the SHOC2 gene, results from an A to G substitution at nucleotide position 613. The threonine at codon 205 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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.