ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)

gnomAD frequency: 0.00006  dbSNP: rs201168934
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233930 SCV000752606 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-09-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 948 of the COL1A2 protein (p.Arg948His). This variant is present in population databases (rs201168934, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 526887). 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 expected to disrupt COL1A2 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.
CeGaT Center for Human Genetics Tuebingen RCV000998847 SCV001155151 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438651 SCV002748500 uncertain significance Cardiovascular phenotype 2024-02-12 criteria provided, single submitter clinical testing The p.R948H variant (also known as c.2843G>A), located in coding exon 44 of the COL1A2 gene, results from a G to A substitution at nucleotide position 2843. The arginine at codon 948 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499039 SCV002806997 uncertain significance Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 2022-03-05 criteria provided, single submitter clinical testing

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