ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.488T>C (p.Met163Thr) (rs1273330603)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171543 SCV001334328 uncertain significance Nonsyndromic hearing loss and deafness 2020-04-29 reviewed by expert panel curation The c.488T>C (p.Met163Thr) variant in GJB2 is present in 0.0115% (1/8710) of African chromosomes in gnomAD 2.1.1, which is a low enough frequency to award PM2 based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2). The REVEL computational prediction analysis tool produced a score of 0.981, which is above the threshold necessary to apply PP3. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2, PP3.
GeneDx RCV000523253 SCV000617685 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing Identified in two individuals from a large cohort of patients with hearing loss in published literature (Putcha et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17666888, 25388846, 19081147, 30755392)
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735348 SCV000854502 likely pathogenic Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress criteria provided, single submitter clinical testing

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