ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1890_1892CGA[1] (p.Asp631del) (rs377767435)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808356 SCV000948463 uncertain significance Multiple endocrine neoplasia, type 2 2018-08-06 criteria provided, single submitter clinical testing This variant, c.1893_1895delCGA, results in the deletion of 1 amino acid of the RET protein (p.Asp631del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with multiple endocrine neoplasia type 2 in one family (PMID: 17923033). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of deletion of the p.Asp631 amino acid residue is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Research and Development, ARUP Laboratories RCV000664358 SCV000788284 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single Chinese family report, 5 have the mutation genotype: 4 Pheo, 3 MTC, 1 asymptomatic (10yr). Youngest with MTC or Pheo: 31 yr. Deletion of 3 bp causes loss of codon 631. Reference article is in Chinese. Reference in English: PMID 18845906.

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