Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003574704 | SCV004343949 | pathogenic | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg266Glyfs*8) 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). This variant is present in population databases (rs397514543, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive muscular dystrophy-dystroglycanopathy (PMID: 23217329). ClinVar contains an entry for this variant (Variation ID: 39603). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000032803 | SCV000056571 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2012-12-07 | no assertion criteria provided | literature only |