ClinVar Miner

Submissions for variant GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM RCV000735276 SCV000851996 likely pathogenic Charcot-Marie-Tooth disease, type 4H 2018-11-07 no assertion criteria provided clinical testing Pathogenic variants reported in FGD4 gene, homozygote or compound heterozygote, lead to truncated or absent protein causative for a demyelinating neuropathy (Dohrn MF et al, J Neurochem. 2017 Dec;143(5):507-522; Hyun YS et al, Ann Hum Genet. 2015 Nov;79(6):460-9). arrayCGH revealed an homozygote intragenic duplication, inherited from both heterozygote parents, with a probable deleterious effect on gene expression of the two alleles. This CNV gain have been suspected on read depth based analysis of high throughput sequencing data. Moreover, no SNV has been retained as pathogenic. Phenotype is consistent with FGD4-associated neuropathy.

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