ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2752C>T (p.Arg918Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596035 SCV005091031 pathogenic Infantile cortical hyperostosis 2023-10-04 criteria provided, single submitter clinical testing PS3, PM1, PM2, PP3, PP4, PP5 - Low frequency in gnomAD population databases. In silico prediction tools estimated that the variant could be damaging for the protein function/stracture. Higly relevant to the patient's phenotype. This variant has been previously reported as causative for Caffey disease (PMID:34272483).

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