Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000036121 | SCV000059773 | pathogenic | Rare genetic deafness | 2010-04-23 | criteria provided, single submitter | clinical testing | The 3696_3706del (Arg1232fs) variant in MYO7A has not been reported in the liter ature nor previously identified by our laboratory. However, the Arg1232fs varian t is predicted to cause a frameshift, which alters the protein's amino acid sequ ence beginning at codon 1232 and leads to a premature stop codon 72 codons downs tream. This alteration is then predicted to lead to a truncated or absent protei n. In summary, this variant is highly likely to be pathogenic. |
| Invitae | RCV001852745 | SCV002238557 | pathogenic | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1232Serfs*72) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive MYO7A-related conditions (PMID: 28731162, 30029497). ClinVar contains an entry for this variant (Variation ID: 43217). For these reasons, this variant has been classified as Pathogenic. |
| Natera, |
RCV001826546 | SCV002086681 | pathogenic | Usher syndrome type 1B | 2020-07-14 | no assertion criteria provided | clinical testing |