ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)

dbSNP: rs1426679303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000656356 SCV000883177 uncertain significance Hearing loss, autosomal recessive 57 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Deafness, autosomal recessive, 57. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29048736).
OMIM RCV000656356 SCV000778329 pathogenic Hearing loss, autosomal recessive 57 2018-06-01 no assertion criteria provided literature only

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