ClinVar Miner

Submissions for variant NM_020975.4(RET):c.1891G>T(;)2372A>T

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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 RCV000664354 SCV000788280 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.D631Y was found with p.Y791F sequence change, genotype c.1891G>T(;)2372A>T. Single French individual report: MTC and Pheo at 31 yr. Unknown if sequence changes are in cis or in trans. p.Y791F is likely a benign polymorphism rather than a disease-causing mutation (PMID 19906784 and 25425582), see p.Y791F entries for more information. For reports of p.D631Y alone, see c.1891G>T.

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