ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.333T>C (p.Thr111=) (rs141729611)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593541 SCV000701619 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780265 SCV000917377 uncertain significance not specified 2018-09-11 criteria provided, single submitter clinical testing Variant summary: FKTN c.333T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.7e-05 in 275642 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in FKTN causing Cardiomyopathy (4.7e-05 vs 0.005), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.333T>C in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign or uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000634089 SCV000755367 likely benign Walker-Warburg congenital muscular dystrophy 2017-11-13 criteria provided, single submitter clinical testing

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