ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg)

dbSNP: rs1590053918
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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 RCV000826018 SCV000967506 uncertain significance not specified 2018-04-10 criteria provided, single submitter clinical testing The p.Gly509Arg variant in PDZD7 has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studie s. Computational prediction tools and conservation analysis suggest that the p.G ly509Arg variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the p.Gly509Arg variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4.
Baylor Genetics RCV001328701 SCV001519876 uncertain significance Hearing loss, autosomal recessive 57 2019-07-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002536076 SCV002934421 uncertain significance not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 509 of the PDZD7 protein (p.Gly509Arg). This variant is not present in population databases (gnomAD no frequency). 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: 667311). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.

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