ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2304G>T (p.Glu768Asp) (rs78014899)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410061 SCV000489773 likely pathogenic Multiple endocrine neoplasia, type 2b 2015-12-29 criteria provided, single submitter clinical testing
Counsyl RCV000411546 SCV000489774 likely pathogenic Multiple endocrine neoplasia, type 2a 2015-12-29 criteria provided, single submitter clinical testing
Mendelics RCV000411546 SCV001138029 pathogenic Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000032037 SCV001397434 likely pathogenic Multiple endocrine neoplasia, type 2 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 768 of the RET protein (p.Glu768Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with medullary thyroid carcinoma (PMID: 12116277, 9263528, 11230481, 15855933, 16736292, 17097365, 18062802). ClinVar contains an entry for this variant (Variation ID: 38611). This variant has been reported to have conflicting or insufficient data to determine the effect on RET protein function (PMID: 15184865, 26046350, 17047083, 14715928). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research and Development, ARUP Laboratories RCV000032037 SCV000055387 pathogenic Multiple endocrine neoplasia, type 2 2018-05-04 no assertion criteria provided literature only Three individual reports: MTC only. One patient had bilateral MTC. Youngest with MTC: 41 yr. Additional references: PMID 12016484 and 12116277. Has been found with another RET change, see c.2304G>T(;)2410G>A.

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