ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)

gnomAD frequency: 0.00003  dbSNP: rs754110650
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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 RCV001351482 SCV001545959 uncertain significance Fucosidosis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 164 of the FUCA1 protein (p.Leu164Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs754110650, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with FUCA1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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