ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)

dbSNP: rs1639662981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001264840 SCV004397803 pathogenic Fucosidosis 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp72*) in the FUCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FUCA1 are known to be pathogenic (PMID: 10094192). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FUCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 984723). For these reasons, this variant has been classified as Pathogenic.
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001264840 SCV001443108 likely pathogenic Fucosidosis no assertion criteria provided clinical testing

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