ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.604del (p.Ser202fs)

dbSNP: rs2492943549
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018227 SCV004848856 likely pathogenic Rare genetic deafness 2022-11-03 criteria provided, single submitter clinical testing The p.Ser202AlafsX77 variant in PDZD7 has not been reported in individuals with hearing loss and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 202 and leads to a premature termination codon 77 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the PDZD7 gene is an established disease mechanism in autosomal recessive hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive hearing loss. ACMG/AMP Criteria applied: PM2_supporting, PVS1.

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