ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)

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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 RCV002800792 SCV003032032 pathogenic Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg351*) in the DIAPH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DIAPH1 are known to be pathogenic (PMID: 24781755, 26463574). This variant is present in population databases (rs755174598, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1990251). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004725379 SCV005333701 pathogenic not provided 2022-04-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: Acer2017[Abstract])

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