ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)

dbSNP: rs1602349014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823165 SCV002073176 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 criteria provided, single submitter clinical testing The missense variant p.T86A in GJB1 (NM_000166.6) has been previously reported in a sporadic male patient but no functional studies have been performed (Sorour E et al). The variant has been submitted to ClinVar as uncertain significance. The p.T86A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T86A missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 86 of GJB1 is conserved in all mammalian species. The nucleotide c.256 in GJB1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Inherited Neuropathy Consortium RCV000789944 SCV000929329 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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