ClinVar Miner

Submissions for variant NM_020975.6(RET):c.452A>G (p.Asn151Ser)

gnomAD frequency: 0.00005  dbSNP: rs150261092
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575489 SCV000674860 likely benign Hereditary cancer-predisposing syndrome 2023-07-03 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.
Mendelics RCV000709102 SCV000838369 uncertain significance Multiple endocrine neoplasia type 2A 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000812605 SCV000952923 uncertain significance Multiple endocrine neoplasia, type 2 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 151 of the RET protein (p.Asn151Ser). This variant is present in population databases (rs150261092, gnomAD 0.02%). This missense change has been observed in individual(s) with breast cancer (PMID: 35264596, 35534704). ClinVar contains an entry for this variant (Variation ID: 486321). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001764690 SCV002000839 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer (PMID: 35264596); This variant is associated with the following publications: (PMID: 24336963, 14633923, 35264596)
Fulgent Genetics, Fulgent Genetics RCV002483540 SCV002793853 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-06-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459399 SCV004208658 uncertain significance Hirschsprung disease, susceptibility to, 1 2024-03-13 criteria provided, single submitter clinical testing

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.