ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)

gnomAD frequency: 0.00001  dbSNP: rs997047045
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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 RCV001949421 SCV002243238 pathogenic Fucosidosis 2023-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser184*) 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 present in population databases (no rsID available, gnomAD 0.009%). 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: 1458099). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001949421 SCV005649538 likely pathogenic Fucosidosis 2024-06-01 criteria provided, single submitter clinical testing

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