ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)

gnomAD frequency: 0.00005  dbSNP: rs368583838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826016 SCV000967504 uncertain significance not specified 2018-02-15 criteria provided, single submitter clinical testing The p.Arg188Ser variant in PDZD7 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.106% (20/1886 2) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs368583838). Although this variant has been seen in the general population, its frequency is not high enough to rule out a p athogenic role. Computational prediction tools and conservation analysis suggest that the p.Arg188Ser variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Arg188Ser variant is uncertain. ACMG/AMP Criteria applied: PP 3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001044686 SCV001208493 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 188 of the PDZD7 protein (p.Arg188Ser). This variant is present in population databases (rs368583838, gnomAD 0.1%). 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: 667309). 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.
Fulgent Genetics, Fulgent Genetics RCV002478938 SCV002785721 uncertain significance Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 2022-01-05 criteria provided, single submitter clinical testing

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