ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.180dup (p.Phe61fs)

dbSNP: rs2132704748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934875 SCV002130979 pathogenic Walker-Warburg congenital muscular dystrophy 2021-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe61Ilefs*16) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV004996048 SCV005581300 pathogenic Cardiovascular phenotype 2024-09-18 criteria provided, single submitter clinical testing The c.180dupA pathogenic mutation, located in coding exon 3 of the FKTN gene, results from a duplication of A at nucleotide position 180, causing a translational frameshift with a predicted alternate stop codon (p.F61Ifs*16). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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