ClinVar Miner

Submissions for variant NM_005219.4(DIAPH1):c.3439-3del

dbSNP: rs1335130331
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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 RCV000548821 SCV000655965 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-10-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825326 SCV000966621 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing The c.3439-3delC variant in DIAPH1 has not been previously reported in individua ls with hearing loss, but has been identified in 0.0008% (1/113216) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 475707). The c.3439-3delC variant is loca ted in the 3' splice region. Computational tools do not predict a splicing impac t, though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of this variant is uncertain. ACMG/AMP Crit eria applied: PM2, BP4.

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