Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000677139 | SCV000930074 | pathogenic | Autosomal recessive nonsyndromic hearing loss 32 | 2018-11-05 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Deafness, autosomal recessive 32, with or without immotile sperm. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1-Strong : PVS1 downgraded in strength to Strong. PP1-Strong : Segregation data PP1 upgraded to strong (PMID:29293958). |
Kariminejad - |
RCV001836860 | SCV000995060 | likely pathogenic | Ear malformation | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003727805 | SCV004540431 | pathogenic | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg345*) in the CDC14A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDC14A are known to be pathogenic (PMID: 27259055). 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 autosomal recessive deafness (PMID: 31850270). ClinVar contains an entry for this variant (Variation ID: 559439). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000677139 | SCV000803209 | pathogenic | Autosomal recessive nonsyndromic hearing loss 32 | 2018-08-06 | no assertion criteria provided | literature only |