ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)

gnomAD frequency: 0.00001  dbSNP: rs80358199
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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 RCV000000727 SCV004291764 likely pathogenic Fucosidosis 2023-05-17 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 692). This variant is also known as L405R. This missense change has been observed in individual(s) with fucosidosis (PMID: 9762612). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 410 of the FUCA1 protein (p.Leu410Arg).
OMIM RCV000000727 SCV000020877 pathogenic Fucosidosis 1998-08-01 no assertion criteria provided literature only

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