Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000708247 | SCV000837357 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2017-05-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the DYNC1H1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the DYNC1H1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with a DYNC1H1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DYNC1H1 cause disease. In summary, this variant has uncertain impact on DYNC1H1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |