ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.565G>A (p.Val189Ile)

gnomAD frequency: 0.00003  dbSNP: rs770116247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558127 SCV000658917 likely benign Charcot-Marie-Tooth Neuropathy X 2023-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350395 SCV002652074 uncertain significance Inborn genetic diseases 2019-12-06 criteria provided, single submitter clinical testing The p.V189I variant (also known as c.565G>A), located in coding exon 1 of the GJB1 gene, results from a G to A substitution at nucleotide position 565. The valine at codon 189 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483509 SCV002784841 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2022-04-12 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789820 SCV000929204 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Natera, Inc. RCV000789820 SCV001462646 uncertain significance Charcot-Marie-Tooth disease 2020-09-16 no assertion criteria provided clinical testing

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