ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)

dbSNP: rs1235751512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584874 SCV000693189 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375058 SCV001571772 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate
Invitae RCV003767321 SCV004590537 pathogenic Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-12-25 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: 493417). 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.Met1090Asnfs*13) 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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