ClinVar Miner

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

gnomAD frequency: 0.00052  dbSNP: rs373811074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047396 SCV001211353 uncertain significance Joubert syndrome 14 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 84 of the TMEM237 protein (p.Gln84Arg). This variant is present in population databases (rs373811074, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions. ClinVar contains an entry for this variant (Variation ID: 844526). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TMEM237 protein function. 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 2021-11-02 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
Revvity Omics, Revvity RCV001047396 SCV003825402 uncertain significance Joubert syndrome 14 2020-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938415 SCV004756297 likely benign TMEM237-related condition 2022-02-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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