ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047396 SCV001211353 uncertain significance Joubert syndrome 14 2020-09-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 84 of the TMEM237 protein (p.Gln84Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs373811074, ExAC 0.2%). This variant has not been reported in the literature in individuals with TMEM237-related conditions. 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.
GeneDx RCV001551260 SCV001771729 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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