ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.911-1G>A

gnomAD frequency: 0.00001  dbSNP: rs958678700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731141 SCV000858919 pathogenic not provided 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855755 SCV002288058 likely pathogenic Walker-Warburg congenital muscular dystrophy 2023-08-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 595560). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 8 of the FKTN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264).
Baylor Genetics RCV003465665 SCV004199717 likely pathogenic Dilated cardiomyopathy 1X 2023-10-19 criteria provided, single submitter clinical testing

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