ClinVar Miner

Submissions for variant NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)

gnomAD frequency: 0.00016  dbSNP: rs755169246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000757949 SCV000930551 uncertain significance Congenital disorder of glycosylation with defective fucosylation 2 2019-04-03 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30503518 (individual 1).
Labcorp Genetics (formerly Invitae), Labcorp RCV002234120 SCV002510185 uncertain significance not provided 2024-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 683 of the FUK protein (p.Arg683Cys). This variant is present in population databases (rs755169246, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with a congenital disorder of glycosylation (PMID: 30503518). ClinVar contains an entry for this variant (Variation ID: 619034). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Baylor Genetics RCV000757949 SCV003836345 likely pathogenic Congenital disorder of glycosylation with defective fucosylation 2 2022-03-21 criteria provided, single submitter clinical testing
OMIM RCV000757949 SCV000886470 pathogenic Congenital disorder of glycosylation with defective fucosylation 2 2019-02-22 no assertion criteria provided literature only

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