ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter)

dbSNP: rs1565899712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 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 (formerly Invitae), Labcorp 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).

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