ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly)

dbSNP: rs1907874708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223945 SCV001396116 uncertain significance Osteogenesis imperfecta type I 2019-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 116 of the COL1A1 protein (p.Asp116Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant has not been reported in the literature in individuals with COL1A1-related conditions. 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.
GeneDx RCV002245879 SCV002512811 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); Has not been previously published as pathogenic or benign to our knowledge

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