ClinVar Miner

Submissions for variant NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs)

dbSNP: rs1560558455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003407375 SCV004112422 likely pathogenic ODAPH-related disorder 2023-01-23 criteria provided, single submitter clinical testing The ODAPH c.51_56delinsATGCTGGTTACTGGTA variant is predicted to result in a frameshift and premature protein termination (p.Val18Cysfs*23). This variant has been reported in both the homozygous and compound heterozygous states in individuals with amelogenesis imperfecta (Parry et al 2012. PubMed ID: 22901946). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in ODAPH are expected to be pathogenic. This variant is interpreted as likely pathogenic.
OMIM RCV000030795 SCV000053457 pathogenic Amelogenesis imperfecta hypomaturation type 2A4 2012-09-07 no assertion criteria provided literature only

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