ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) (rs79853121)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410425 SCV000489779 uncertain significance Multiple endocrine neoplasia, type 2b 2016-02-02 criteria provided, single submitter clinical testing
Counsyl RCV000411688 SCV000489780 uncertain significance Multiple endocrine neoplasia, type 2a 2016-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563865 SCV000674898 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000704911 SCV000833884 uncertain significance Multiple endocrine neoplasia, type 2 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1039 of the RET protein (p.Pro1039Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs79853121, ExAC 0.006%). This variant has been reported in an individual affected with congenital central hypoventilation syndrome and total colonic aganglionosis (PMID: 9497256). ClinVar contains an entry for this variant (Variation ID: 13948). This variant has been reported to have conflicting or insufficient data to determine the effect on RET protein function (PMID: 9502784, 10921886). 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.
OMIM RCV000014975 SCV000035231 pathogenic Central hypoventilation syndrome, congenital, with hirschsprung disease 2003-04-01 no assertion criteria provided literature only
CSER _CC_NCGL, University of Washington RCV000148783 SCV000190521 uncertain significance Hirschsprung disease 2014-06-01 no assertion criteria provided research

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