ClinVar Miner

Submissions for variant NM_006371.5(CRTAP):c.24_31del (p.Ala10fs)

dbSNP: rs74315154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382668 SCV001581563 pathogenic Osteogenesis imperfecta type 7 2024-04-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala10Serfs*148) in the CRTAP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRTAP are known to be pathogenic (PMID: 17055431, 19862557, 24715559). This variant is present in population databases (rs755750808, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (PMID: 18566967). ClinVar contains an entry for this variant (Variation ID: 1070506). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001597269 SCV001832429 pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing

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