ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.473_474insTA (p.Val159fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV004719069 SCV005324790 pathogenic Hearing loss, autosomal recessive 2024-05-01 criteria provided, single submitter research The PTPRQ:c.473_474insTA: is a null variant in a gene where loss of function is a known mechanism of disease (PVS1), Extremely low frequency in gnomAD population databases (PM2), For recessive disorders, detected in trans with a pathogenic variant, or in a homozygous or compound heterozygous state in affected cases (PM3). Here it was detected in homozygosis in affected individual born from consanguineous couple, with two additional untested affected siblings.

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