ClinVar Miner

Submissions for variant NM_020975.6(RET):c.604G>A (p.Val202Met) (rs751572082)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163807 SCV000214390 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000229469 SCV000290566 uncertain significance Multiple endocrine neoplasia, type 2 2019-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 202 of the RET protein (p.Val202Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs751572082, ExAC 0.02%). This variant has been reported in an individual affected with Hirschsprung disease (PMID: 11436122). ClinVar contains an entry for this variant (Variation ID: 184536). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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.
Counsyl RCV000409859 SCV000489893 uncertain significance Multiple endocrine neoplasia, type 2b 2016-07-14 criteria provided, single submitter clinical testing
Counsyl RCV000411409 SCV000489894 uncertain significance Multiple endocrine neoplasia, type 2a 2016-07-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455164 SCV000540169 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 report in Hirschsprung, 1 report in thyroid carcinoma; ExAC: 1/6496 Finnish chromosomes
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761173 SCV000891089 uncertain significance Medulloblastoma 2017-05-22 no assertion criteria provided clinical testing

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