ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)

gnomAD frequency: 0.00004  dbSNP: rs764670582
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Total submissions: 3
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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 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

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