ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.250G>A (p.Val84Met) (rs104894409)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254760 SCV000322426 pathogenic not provided 2019-12-31 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 19101659, 25266519, 12865758, 17660464, 16222667, 25388846, 24774219, 23668481, 9529365, 30344259, 31160754, 32067424)
Counsyl RCV000410225 SCV000487630 pathogenic Deafness, autosomal dominant 3a 2016-06-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626853 SCV000747556 pathogenic Progressive sensorineural hearing impairment 2017-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000254760 SCV001143664 pathogenic not provided 2021-05-13 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with hearing loss. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant reduced gap junction permeability (PMID: 17660464). In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Computational tools predict that this variant is damaging.
OMIM RCV000018564 SCV000038846 pathogenic Deafness, autosomal recessive 1A 2007-11-01 no assertion criteria provided literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211769 SCV000061491 pathogenic Rare genetic deafness 2007-02-12 no assertion criteria provided clinical testing
Counsyl RCV000018564 SCV000487629 pathogenic Deafness, autosomal recessive 1A 2016-06-08 no assertion criteria provided clinical testing
Natera, Inc. RCV000018564 SCV001453342 pathogenic Deafness, autosomal recessive 1A 2020-09-16 no assertion criteria provided clinical testing

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