ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[2410G>A;2417A>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000664390 SCV000788319 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.Y806C was found in cis with p.V804M mutation in an Japanese MEN2B patient, genotype c.[2410G>A;2417A>G]. Patient had MTC at 23 yr. Two other family members with p.Y806C only were asymptomatic (27 and 51 yr). In another report on this family (PMID 25759805), proband's daughter has both mutations and MEN2B symptoms: MTC at 8 yrs. In vitro studies: p.Y806C results in low RET activity, yet synergistic with V804M (PMID 10679286).

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