ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) (rs398123558)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589360 SCV000331458 likely pathogenic not provided 2013-07-24 criteria provided, single submitter clinical testing
Integrated 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.

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