Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000300802 | SCV000340809 | uncertain significance | not provided | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000503716 | SCV000595269 | likely pathogenic | Muscular dystrophy-dystroglycanopathy | 2016-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000688977 | SCV000816610 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 | 2019-01-10 | criteria provided, single submitter | clinical testing | This variant, c.277_279delATT, results in the deletion of 1 amino acid of the ISPD protein (p.Ile93del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with clinical features of Walker-Warburg syndrome (PMID: 2522420, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 31564). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000024272 | SCV000045563 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 2012-05-01 | no assertion criteria provided | literature only |