ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)

gnomAD frequency: 0.00005  dbSNP: rs368026275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179818 SCV000232127 uncertain significance not provided 2015-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763639 SCV000894510 uncertain significance Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000179818 SCV002032536 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV000179818 SCV002118411 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 293 of the PDZD7 protein (p.Arg293Gln). This variant is present in population databases (rs368026275, gnomAD 0.01%). 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: 198461). 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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