ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)

dbSNP: rs773193491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV001281370 SCV001468296 pathogenic Hearing loss, autosomal recessive 57 2020-07-08 criteria provided, single submitter case-control Targeted exome sequencing identified a novel homozygous missense mutation c.251T>C (p.I84T) in exon 3 of PDZD7 gene. In addition, segregation and phenotype-genotype correlation analysis as well as in-silico evaluations confirmed the autosomal recessive inheritance pattern and disease-causing nature of mutation found. In overall, our finding could expand the pathogenic mutations spectrum and strengthens the clinical importance of the PDZD7 gene in ARNSHL patients.

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