ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.768+1G>A

dbSNP: rs1639468949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001264832 SCV001443033 pathogenic Fucosidosis 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3_Supporting
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814299 SCV001755447 pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV001264832 SCV004291767 likely pathogenic Fucosidosis 2023-10-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the FUCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FUCA1 are known to be pathogenic (PMID: 10094192). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with autosomal recessive fucosidosis (PMID: 28097321). ClinVar contains an entry for this variant (Variation ID: 984720). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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