Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032503 | SCV001195810 | pathogenic | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 43-46 of the MYO7A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with autosomal recessive deafness (PMID: 31598937). This variant disrupts a region of the MYO7A protein in which other variant(s) (p.Phe1963del) have been determined to be pathogenic (PMID: 16679490, 24199935, 29142287, 30459346). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |