ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2488G>A (p.Gly830Arg) (rs200127630)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409178 SCV000489755 uncertain significance Multiple endocrine neoplasia, type 2b 2015-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000410477 SCV000489756 uncertain significance Multiple endocrine neoplasia, type 2a 2015-12-01 criteria provided, single submitter clinical testing
Invitae RCV000704852 SCV000833823 uncertain significance Multiple endocrine neoplasia, type 2 2018-02-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 830 of the RET protein (p.Gly830Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200127630, ExAC 0.05%). This variant has been reported in an individual affected with Hirschsprung disease (PMID: 22174939). ClinVar contains an entry for this variant (Variation ID: 372078). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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