Submissions for variant NM_145059.3(FCSK):c.1579C>T (p.Arg527Cys)

dbSNP: rs1377077648

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001175523	SCV001339131	uncertain significance	not specified	2020-03-24	criteria provided, single submitter	clinical testing	Variant summary: FCSK c.1579C>T (p.Arg527Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 148844 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1579C>T in individuals affected with Congenital disorder of glycosylation with defective fucosylation 2 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004813157	SCV005438381	uncertain significance	Congenital disorder of glycosylation with defective fucosylation 2	2024-12-18	criteria provided, single submitter	clinical testing