Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000589360 | SCV000331458 | likely pathogenic | not provided | 2013-07-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589360 | SCV000698719 | uncertain significance | not provided | 2017-08-24 | criteria provided, single submitter | clinical testing | Variant summary: The FKTN c.748T>C (p.Cys250Arg) variant involves the alteration of a conserved nucleotide and 4/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a damaging outcome for this variant. However, these predictions have yet to be functionally assessed. This variant is absent in 121170 control chromosomes. A clinical diagnostic laboratory cites the variant of interest, however, it is believed that it was cited in error due to another variant at this location, c.748T>G, which causes a different missense change, Cys250Gly that has been cited in a FCMD pt (Kondo-Lida PMID: 10545611). The variant of interest, however, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available. |