Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000677136 | SCV000930072 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 32 | 2018-11-05 | criteria provided, single submitter | curation | This variant is interpreted as a Likely 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. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1-Strong : Segregation data PP1 upgraded to strong (PMID:29293958). |
| Labcorp Genetics |
RCV001855621 | SCV002172070 | pathogenic | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CDC14A protein function. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 312 of the CDC14A protein (p.Arg312Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with deafness (PMID: 29293958). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 559436). This variant disrupts the p.Arg312 amino acid residue in CDC14A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29293958). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. |
| OMIM | RCV000677136 | SCV000803206 | pathogenic | Autosomal recessive nonsyndromic hearing loss 32 | 2018-08-03 | no assertion criteria provided | literature only |