ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)

dbSNP: rs145910584
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343487 SCV001537474 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 200 of the PDZD7 protein (p.Asp200Asn). This variant is present in population databases (rs145910584, gnomAD 0.06%). 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: 1039923). 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 not expected to disrupt PDZD7 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001343487 SCV001791828 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002486394 SCV002777792 uncertain significance Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 2022-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546991 SCV003690743 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.598G>A (p.D200N) alteration is located in exon 5 (coding exon 4) of the PDZD7 gene. This alteration results from a G to A substitution at nucleotide position 598, causing the aspartic acid (D) at amino acid position 200 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.