Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV000785865 | SCV000924451 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2019-01-01 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV002536880 | SCV003455804 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp130*) in the RXYLT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RXYLT1 are known to be pathogenic (PMID: 23217329, 23519211, 31742715). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 634990). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy-dystroglycanopathy (PMID: 31742715). |