ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)

dbSNP: rs1564301594
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760735 SCV000890628 likely pathogenic not provided 2023-10-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001855931 SCV002233819 pathogenic Walker-Warburg congenital muscular dystrophy 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620364). 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 creates a premature translational stop signal (p.Tyr252*) 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).
Ambry Genetics RCV003166018 SCV003857386 pathogenic Cardiovascular phenotype 2023-03-13 criteria provided, single submitter clinical testing The p.Y252* pathogenic mutation (also known as c.756T>A), located in coding exon 5 of the FKTN gene, results from a T to A substitution at nucleotide position 756. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. 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.
Baylor Genetics RCV003472283 SCV004199731 likely pathogenic Dilated cardiomyopathy 1X 2023-07-23 criteria provided, single submitter clinical testing

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