ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter)

dbSNP: rs1331356644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880335 SCV002127097 pathogenic Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1356050). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1056*) 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).

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