ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)

gnomAD frequency: 0.00003  dbSNP: rs771783989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594355 SCV001826667 uncertain significance not provided 2020-12-07 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001866223 SCV002112837 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2023-07-21 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1219159). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. This variant is present in population databases (rs771783989, gnomAD 0.009%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 109 of the TMEM231 protein (p.Glu109Gln).

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