ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter)

dbSNP: rs1468599549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385626 SCV001585522 pathogenic not provided 2020-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys331*) in the PDZD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDZD7 are known to be pathogenic (PMID: 20440071). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PDZD7-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.
GeneDx RCV001385626 SCV004014225 likely pathogenic not provided 2023-07-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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