ClinVar Miner

Submissions for variant NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del

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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 RCV000721941 SCV000851992 likely pathogenic Giant axonal neuropathy 1 2018-11-07 no assertion criteria provided clinical testing The chr16:g.[(81367334_81379355)_(81401689_81410823)del] (GRCh37,NC_000016.9) variant (inherited from the father) have been found in compound heterozygous state with the chr16:g.[81391453C>T (GRCh37, NC_000016.9) variant (inherited from the mother) in a patient with a consistent phenotype with Giant axonal neuropathy-1 (OMIM #256850). These variants (one CNV and one SNV) have been found with an arrayCGH and a targeted sequencing panel focusing on a reported gene associated with neuropathy. The CNV has been confirmed by quantitative PCR analysis. No functional test has been performed. These variants are not currently reported in any public databases.

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