ClinVar Miner

Submissions for variant NM_020975.6(RET):c.308A>G (p.His103Arg) (rs375390467)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196485 SCV000255053 uncertain significance Multiple endocrine neoplasia, type 2 2019-09-25 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 103 of the RET protein (p.His103Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 216724). 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.
Counsyl RCV000409523 SCV000490053 uncertain significance Multiple endocrine neoplasia, type 2b 2016-10-18 criteria provided, single submitter clinical testing
Counsyl RCV000411052 SCV000490054 uncertain significance Multiple endocrine neoplasia, type 2a 2016-10-18 criteria provided, single submitter clinical testing

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