ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg)

gnomAD frequency: 0.00023  dbSNP: rs199634098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955583 SCV002220344 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 216 of the EPB42 protein (p.Gly216Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs199634098, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with EPB42-related conditions. 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 EPB42 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.
Revvity Omics, Revvity RCV003146396 SCV003833514 uncertain significance Hereditary spherocytosis type 5 2022-11-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001955583 SCV004227386 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing BP4_strong, PM2

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