ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) (rs775583354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663067 SCV000786132 uncertain significance Multiple endocrine neoplasia, type 2a 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV000654601 SCV000776495 uncertain significance Multiple endocrine neoplasia, type 2 2018-05-17 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1067 of the RET protein (p.Pro1067Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs775583354, ExAC 0.01%). This variant has been reported in a stillborn fetus affected with unilateral renal agenesis (PMID: 18252215). In vitro cell line experimental studies using recombinant RET cDNA have shown that this missense change might abrogate phosphorylation of the RET protein at residue Y1062, which has been shown to be critical for kidney development (PMID: 18252215, 16227613). 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.

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