Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647113 | SCV000768900 | pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2022-03-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs750756707, gnomAD 0.004%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 537990). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This sequence change creates a premature translational stop signal (p.Tyr358Leufs*21) in the ITGA7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGA7 are known to be pathogenic (PMID: 9590299). |