ClinVar Miner

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

dbSNP: rs377767435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808356 SCV000948463 uncertain significance Multiple endocrine neoplasia, type 2 2018-08-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 has been observed to segregate with multiple endocrine neoplasia type 2 in one family (PMID: 17923033). 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. 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.

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