ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp)

gnomAD frequency: 0.00001  dbSNP: rs573956926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232501 SCV001405063 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 654 of the PDZD7 protein (p.Arg654Trp). This variant is present in population databases (rs573956926, gnomAD 0.03%). 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: 959201). 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.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375141 SCV001572150 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting

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