ClinVar Miner

Submissions for variant NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg)

dbSNP: rs2125596197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV002073407 SCV001976358 pathogenic Osteogenesis imperfecta type 7 criteria provided, single submitter clinical testing The compound heterozygous variants c.62_77del (p.Leu21Profs*16) and c.470A>G (p.Lys157Arg) in the CRTAP gene were identified in a patient diagnosed as osteogenesis imperfecta. The c.470A>G variant is absent from database (gnomAD, 1000 Genomes Project Consortium, dbSNPs, Thai reference exome (T-Rex) variant database). This variant locates at the second last bp of exon1 which is likely to disturb normal splicing (predicted by MutationTaster program) and classified as pathogenic using ACMG Guidelines.

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