ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)

dbSNP: rs771360300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001919847 SCV002160944 pathogenic Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro704Thrfs*71) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive DIAPH1-related conditions (PMID: 33176815). ClinVar contains an entry for this variant (Variation ID: 1395984). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002264421 SCV002545356 pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing DIAPH1: PVS1, PM2, PM3

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