ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002630057 SCV003523263 pathogenic Fucosidosis 2022-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.W148X. This premature translational stop signal has been observed in individual(s) with Fucosidosis (PMID: 10496076). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp153*) 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).

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