ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.911-13A>G

dbSNP: rs766103012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703637 SCV000520106 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing Reported along with a second variant in the FKTN gene in a patient with congenital muscular dystrophy and cardiomyopathy; however, complete segregation information was not provided (Freire et al., 2019); Published RNA studies suggest a deleterious effect on splicing; however, limited information is available in the abstract (Freire et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: Freire2019[abstract])
Illumina Laboratory Services, Illumina RCV001165725 SCV001327956 uncertain significance Dilated cardiomyopathy 1X 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001165726 SCV001327957 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861502 SCV002191084 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-18 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the FKTN gene. It does not directly change the encoded amino acid sequence of the FKTN protein. This variant is present in population databases (rs766103012, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 381052). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002230246 SCV002511752 uncertain significance not specified 2022-04-05 criteria provided, single submitter clinical testing

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