ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.557C>T (p.Thr186Met)

gnomAD frequency: 0.00001  dbSNP: rs753674300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001112458 SCV001270118 uncertain significance Autosomal dominant nonsyndromic hearing loss 3A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001112459 SCV001270119 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001112460 SCV001270120 uncertain significance Ichthyosis, hystrix-like, with hearing loss 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Myriad Genetics, Inc. RCV001112459 SCV002060103 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A 2022-01-03 criteria provided, single submitter clinical testing NM_004004.5(GJB2):c.557C>T(T186M) is a missense variant classified as a variant of uncertain significance in the context of GJB2-related DFNB1 nonsyndromic hearing loss and deafness. T186M has been observed in cases with relevant disease (PMID: 17309986, 20146813, 24256046). Functional assessments of this variant are not available in the literature. T186M has been observed in population frequency databases (gnomAD: EAS 0.01%). In summary, there is insufficient evidence to classify NM_004004.5(GJB2):c.557C>T(T186M) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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