Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV001171317 | SCV001334047 | likely pathogenic | Hearing loss, autosomal recessive 57 | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001664724 | SCV001875166 | pathogenic | not provided | 2023-07-11 | criteria provided, single submitter | clinical testing | Observed phase unknown with a second PDZD7 variant in unrelated patients with bilateral congenital sensorineural hearing loss referred for genetic testing at GeneDx; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20440071) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001171317 | SCV002061713 | likely pathogenic | Hearing loss, autosomal recessive 57 | 2021-04-01 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Invitae | RCV001664724 | SCV002129985 | pathogenic | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala697Profs*26) in the PDZD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDZD7 are known to be pathogenic (PMID: 20440071). This variant is present in population databases (no rsID available, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with PDZD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 915843). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002559641 | SCV003686419 | pathogenic | Inborn genetic diseases | 2020-04-07 | criteria provided, single submitter | clinical testing | The c.2089delG (p.A697Pfs*26) alteration, located in exon 15 (coding exon 14) of the PDZD7 gene, consists of a deletion of one nucleotide at position 2089, causing a translational frameshift with a predicted alternate stop codon after 26 amino acids. Frameshift alterations are typically deleterious in nature (Richards, 2015). The alteration is rare in population databases: Based on data from the Genome Aggregation Database (gnomAD), the c.2089delG alteration was observed in 0.027% (44/162436) of total alleles studied, with a frequency of 0.17% (44/25210) in the Latino subpopulation. Based on the available evidence, this alteration is classified as pathogenic. |