ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) (rs377767429)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000021873 SCV000042539 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.A883F accounts for ~5% of known MEN2B mutations. Youngest with MTC: 10 yr. Youngest with Pheo: 11 yr. Five unrelated individual reports with de novo mutations: 5 MTC (10 yr-19yr), 3 Pheo (11yr, 23yr and 34 yr), all had mucusal neuromas, and 4 with marfaniod habitus (PMID 28323957). Family report, 2 with mutation genotype: 1 MTC (28 yr), 1 CCH (8 yr), both had mucosal neuromas. Family report, 2 with mutation genotype: 2 MTC, and 1 Pheo (44 yr), both had mucosal neuromas and marfanoid habitus. Family report, 4 with mutation genotype: 1 with MTC and Pheo (39 yr), 3 had CCH or normal thyroid at surgery (7, 7 and 9 yr), and 2 with mucosal neuromas (PMID 21186952 and 28323957). Additional references: PMID 9360560, 9294615, and 15281979.
Database of Curated Mutations (DoCM) RCV000422001 SCV000504814 likely pathogenic Medullary thyroid carcinoma 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433892 SCV000510497 likely pathogenic Multiple endocrine neoplasia, type 2a 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445104 SCV000510498 likely pathogenic Multiple endocrine neoplasia, type 4 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426500 SCV000510499 likely pathogenic Multiple endocrine neoplasia, type 1 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000021873 SCV000510501 likely pathogenic Multiple endocrine neoplasia, type 2b 2016-05-13 no assertion criteria provided literature only

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