ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1083C>A (p.Asn361Lys) (rs770587835)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663048 SCV000786098 uncertain significance Multiple endocrine neoplasia, type 2a 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV000823028 SCV000963866 uncertain significance Multiple endocrine neoplasia, type 2 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 361 of the RET protein (p.Asn361Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in an individual affected with Hirschsprung disease (PMID: 10790203). ClinVar contains an entry for this variant (Variation ID: 548864). Experimental studies have shown that this missense change affects RET protein folding and cellular localization (PMID: 12915470, 26517685). 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 RCV001017228 SCV001178273 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing Insufficient evidence

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