ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.7del (p.Ala3fs)

dbSNP: rs1639669672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781138 SCV002025180 likely pathogenic Fucosidosis 2021-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001781138 SCV004278847 pathogenic Fucosidosis 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala3Leufs*4) 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: 1324433). For these reasons, this variant has been classified as Pathogenic.

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