ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)

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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 RCV003494623 SCV004291765 likely pathogenic Fucosidosis 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 334 of the FUCA1 protein (p.Asn334Tyr). This variant is present in population databases (rs776913133, gnomAD 0.004%). This missense change has been observed in individual(s) with fucosidosis (PMID: 9039984). This variant is also known as N329Y. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FUCA1 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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