ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser)

gnomAD frequency: 0.00004  dbSNP: rs193922170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029607 SCV000052259 uncertain Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
GeneDx RCV001551900 SCV001772500 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing Reported in individuals with typical features of osteogenesis imperfecta (OI) and atypical features of OI (Wang et al., 2015; Hamatani et al., 2018; Wang et al., 2021); Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29225276, 25742658, 34098919)
Revvity Omics, Revvity RCV001551900 SCV003833434 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing
Invitae RCV003764638 SCV004608281 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-08-02 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with osteogenesis imperfecta (PMID: 25742658, 29225276, 34098919). This variant is present in population databases (rs193922170, gnomAD 0.1%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1350 of the COL1A2 protein (p.Gly1350Ser). ClinVar contains an entry for this variant (Variation ID: 35951). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL1A2 protein function.

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