ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1172+1G>A

dbSNP: rs1554761462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674388 SCV000799713 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531350 SCV003314075 pathogenic Walker-Warburg congenital muscular dystrophy 2023-06-17 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKTN protein in which other variant(s) (p.Tyr392*) have been determined to be pathogenic (PMID: 18752264, 22522420). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 558161). 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 a donor splice site in intron 10 of the FKTN gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.
Baylor Genetics RCV003465537 SCV004199768 likely pathogenic Dilated cardiomyopathy 1X 2022-04-21 criteria provided, single submitter clinical testing

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