ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)

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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 RCV003598682 SCV004558925 pathogenic Fucosidosis 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn154Glyfs*28) 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. For these reasons, this variant has been classified as Pathogenic.

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