ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.288del (p.Asp97fs)

dbSNP: rs2144593759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389739 SCV001591192 pathogenic Osteogenesis imperfecta type I 2022-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp97Thrfs*168) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076006). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (Invitae). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002438893 SCV002749635 pathogenic Cardiovascular phenotype 2021-06-25 criteria provided, single submitter clinical testing The c.288delC pathogenic mutation, located in coding exon 2 of the COL1A1 gene, results from a deletion of one nucleotide at nucleotide position 288, causing a translational frameshift with a predicted alternate stop codon (p.D97Tfs*168). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics, Fulgent Genetics RCV002499816 SCV002805063 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2021-11-17 criteria provided, single submitter clinical testing

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