ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)

dbSNP: rs1025144704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228036 SCV001400418 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PDZD7 gene (p.Ser953Alafs*92). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acid(s) of the PDZD7 protein and extend the protein by 10 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.04%). This frameshift has been observed in individual(s) with hearing loss (PMID: 30622556). ClinVar contains an entry for this variant (Variation ID: 955403). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001249835 SCV001423850 uncertain significance Hearing loss, autosomal recessive 57 criteria provided, single submitter research The PDZD7 c.2850delC [p.S953fs] variant is a frameshift variant located in the last exon of PDZD7 with uncertain effect on protein function; it has not previously been reported and is therefore considered a variant of uncertain significance.
GeneDx RCV001228036 SCV001992454 pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in the loss of the last 81 amino acids replaced with 91 different amino acids, but loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 30622556)

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