Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genetic Services Laboratory, |
RCV001818513 | SCV002064509 | likely pathogenic | not provided | 2021-11-18 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the MYO15A gene demonstrated a sequence change in the canonical splice donor site of intron 55, c.9303+1G>T. This sequence change is predicted to disrupt the canonical splice donor site, and affect normal splicing of exon 55. The c.9303+1G>T change has not been previously described in individual with MYO15A-related disorder. This sequence change has not been described in the gnomAD population database. Collectively, this evidence suggests c.9303+1G>T is likely pathogenic, however, functional studies have not been performed to prove this conclusively. |
| Laboratory for Molecular Medicine, |
RCV000218653 | SCV000271416 | pathogenic | Rare genetic deafness | 2015-06-16 | criteria provided, single submitter | clinical testing | The c.9303+1G>T variant in MYO15A has not been previously reported in individual s with hearing loss and was absent from large population studies. This variant o ccurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Lo ss-of-function variants in the MYO15A gene are an established disease mechanism for autosomal recessive hearing loss. In summary, this variant meets our criteri a to be classified as pathogenic for hearing loss in an autosomal recessive mann er (www.partners.org/personalizedmedicine/lmm), based on the predicted impact of the variant. |