ClinVar Miner

Submissions for variant NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter) (rs137853944)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000368253 SCV000443222 uncertain significance Osteogenesis imperfecta type 7 2017-04-27 criteria provided, single submitter clinical testing The CRTAP c.634C>T (p.Arg212Ter) variant is a stop-gained variant and has been reported in one study where it is found in a compound heterozygous state with another stop-gained variant in one individual with osteogenesis imperfecta (Chang et al. 2010). Control data were unavailable for this variant, which is reported at a frequency of 0.00002 in the Total population of the Exome Aggregation Consortium. Western blotting experiments in individual fibroblasts showed that the CRTAP variant protein was absent (Chang et al. 2010). Due to the potential impact of stop-gained variants and the supporting evidence, the p.Arg212Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for osteogenesis imperfecta. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000368253 SCV000920383 likely pathogenic Osteogenesis imperfecta type 7 2019-01-01 criteria provided, single submitter research

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