Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003388655 | SCV004100346 | uncertain significance | Ehlers-Danlos syndrome, cardiac valvular type | criteria provided, single submitter | clinical testing | The missense variant p.G60D in COL1A2 (NM_000089.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G60D variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The gene COL1A2 contains 184 pathogenic missense variants, indicating that missense variants are a common mechanism of disease in this gene. The p.G60D missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 60 of COL1A2 is conserved in all mammalian species. The nucleotide c.179 in COL1A2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. |