ClinVar Miner

Submissions for variant NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) (rs145035679)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490274 SCV000267326 uncertain significance Fucosyltransferase 6 deficiency 2016-03-18 criteria provided, single submitter reference population
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437989 SCV000510989 benign not provided 2017-01-26 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000490274 SCV001435243 benign Fucosyltransferase 6 deficiency criteria provided, single submitter research The heterozygous p.Tyr315Ter variant in FUT6 has been identified in at least 1 Indonesian individual with fucosyltransferase deficiency (PMID: 8175676). In vitro functional studies provide some evidence that the p.Tyr315Ter variant may impact protein function (PMID: 8175676). However, this variant was found in cis with another pathogenic variant and did not segregate with disease in multiple families, suggesting that it may not cause fucosyltransferase deficiency (PMID: 8175676). This variant is classified as benign for fucosyltransferase deficiency because it has been identified in >65% of East Asian chromosomes by ExAC (http://gnomad.broadinstitute.org/).

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