ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser)

gnomAD frequency: 0.00002  dbSNP: rs201463779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231227 SCV000627289 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2017-05-13 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been reported in the literature in one individual affected with osteogenesis imperfecta (PMID: 26402641). This variant is present in population databases (rs201463779, ExAC 0.02%). This sequence change replaces proline with serine at codon 350 of the COL1A2 protein (p.Pro350Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
GeneDx RCV001755798 SCV001987985 uncertain significance not provided 2021-03-31 criteria provided, single submitter clinical testing Has been reported as a likely pathogenic variant in a patient with OI type III in published literature (Bae et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 456801; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26402641)

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