ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2531G>A (p.Arg844Gln) (rs55947360)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205855 SCV000260662 uncertain significance Multiple endocrine neoplasia, type 2 2019-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 844 of the RET protein (p.Arg844Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs55947360, ExAC 0.02%). This variant has been observed in individual(s) with familial medullary thyroid carcinoma (PMID: 18058472, 24699901), and has been reported in exome sequencing of 1,643 cancer-free elderly individuals (PMID: 25425582). ClinVar contains an entry for this variant (Variation ID: 24951). This variant has been reported not to substantially affect RET protein function PMID: 29625052). 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.
Ambry Genetics RCV000575953 SCV000674814 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-12 criteria provided, single submitter clinical testing Insufficient evidence
Counsyl RCV000662363 SCV000784750 uncertain significance Multiple endocrine neoplasia, type 2a 2017-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000662363 SCV000838404 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021865 SCV000042531 uncertain significance not specified 2019-05-01 no assertion criteria provided literature only Single Polish individual report: MTC only. Another Polish individual: MTC only at 44yr, no other MEN2 symptoms (PMID 29386230).

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