Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000513765 | SCV000610462 | likely pathogenic | not provided | 2017-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001853081 | SCV002135125 | uncertain significance | Oculodentodigital dysplasia, autosomal recessive | 2023-07-14 | criteria provided, single submitter | clinical testing | 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 GJA1 protein function. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 239 of the GJA1 protein (p.Arg239Gln). This variant is present in population databases (rs764670582, gnomAD 0.009%). This missense change has been observed in individual(s) with craniometaphyseal dysplasia (PMID: 23951358). ClinVar contains an entry for this variant (Variation ID: 64622). 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. |
OMIM | RCV000185622 | SCV000238534 | pathogenic | Craniometaphyseal dysplasia, autosomal recessive | 2013-01-01 | no assertion criteria provided | literature only |