ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.577dup (p.Tyr193fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002310614 SCV002601671 pathogenic Fucosidosis 2022-10-31 criteria provided, single submitter clinical testing A homozygous single base pair insertion in exon 3 of the FUCA1 gene that results in a frameshift and premature truncation of the protein 4 amino acids downstream to codon 193 was detected. This variant has not been reported in the 1000 genomes and gnomAD databases and has a minor allele frequency of 0.001% in our internal database. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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