ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) (rs377767406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219970 SCV000277656 pathogenic Hereditary cancer-predisposing syndrome 2015-08-08 criteria provided, single submitter clinical testing Strong segregation with disease (lod >3 = >10 meioses)
Research and Development, ARUP Laboratories RCV000021812 SCV000055365 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Youngest with MTC: 30 yr. Youngest with Pheo: 22 yr. First report on two Korean families, 10 have the mutation genotype: 2 MTC, 4 Pheos (PMID 16839264). Only exons 10 - 11 were sequenced. Another family report, 7 with mutation genotype: 1 C-cell hyperplasia, 1 MTC, 3 Pheo, 1 HPT (PMID 22274720). Single Korean individual report: Pheo only at 71 yr (PMID 24134185). In vitro studies: RET activation (PMID 10049754). Additional references: PMID 14718397 and 18062802. Has been found with other RET changes, see c.1891G>T(;)2372A>T and c.1891G>T(;)2456G>T(;)2529G>T.

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