ClinVar Miner

Submissions for variant NM_018341.3(ERMARD):c.563T>C (p.Val188Ala)

gnomAD frequency: 0.00052  dbSNP: rs74451194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515104 SCV000611040 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000515104 SCV000983604 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000515104 SCV005727984 uncertain significance not provided 2024-11-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 188 of the ERMARD protein (p.Val188Ala). This variant is present in population databases (rs74451194, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ERMARD-related conditions. ClinVar contains an entry for this variant (Variation ID: 446063). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ERMARD protein function with a positive predictive value of 80%. 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.
PreventionGenetics, part of Exact Sciences RCV003942681 SCV004759878 likely benign ERMARD-related disorder 2019-11-12 no assertion criteria provided 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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