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
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
Invitae RCV000196485 SCV000255053 uncertain significance Multiple endocrine neoplasia, type 2 2015-04-12 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 moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant has not been published in the literature and is present in population databases (rs375390467, 0.01%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. Furthermore, the arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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