ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) (rs587783644)

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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, RCV000787988 SCV000927016 uncertain significance Nonsyndromic hearing loss and deafness 2019-04-29 reviewed by expert panel curation The allele frequency of the p.Leu36Pro variant in the GJB2 gene is 0.01% (2/19954) of East Asian chromosomes by gnomAD, which is a low enough frequency to apply PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2_Supporting). The REVEL computational prediction analysis tool produced a score of 0.945, which is above the threshold necessary to apply PP3. This variant has been detected in one patient with hearing loss in trans with 35delG (PM3; PMID:16125251). The variant has also been reported in three individuals with no pathogenic variant found in trans (PMIDs: 17666888, 26043044). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2_Supporting, PP3, PM3.
Genetic Services Laboratory, University of Chicago RCV000146004 SCV000193155 pathogenic Hearing impairment 2013-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518385 SCV000613503 uncertain significance not specified 2017-04-24 criteria provided, single submitter clinical testing

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