ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)

dbSNP: rs72667036
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000490652 SCV000627275 pathogenic Osteogenesis imperfecta type I 2025-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg220*) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant is present in population databases (rs72667036, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta type 1 (PMID: 9443882, 18311573, 21667357, 22206639, 26627451). ClinVar contains an entry for this variant (Variation ID: 425637). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001552353 SCV001773023 pathogenic not provided 2022-05-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26627451, 22753364, 30984112, 24501682, 31414283, 32581362, 25944380, 9443882, 21667357, 22206639, 18311573, 34107839, 31447884)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279256 SCV002564746 pathogenic Osteogenesis imperfecta 2019-08-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000490652 SCV002579231 pathogenic Osteogenesis imperfecta type I 2021-07-15 criteria provided, single submitter clinical testing
Department of Medical Sciences, Uppsala University RCV000490652 SCV000574638 pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003534 SCV001161860 likely pathogenic Ehlers-danlos syndrome, arthrochalasia type, 2 no assertion criteria provided research
Autoinflammatory diseases unit, CHU de Montpellier RCV004767298 SCV005381992 pathogenic Stickler syndrome type 2 2024-10-02 no assertion criteria provided clinical testing

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