ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)

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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 RCV003056689 SCV003446302 likely pathogenic Walker-Warburg congenital muscular dystrophy 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys425*) in the FKTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the FKTN protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 2140911). This variant disrupts a region of the FKTN protein in which other variant(s) (p.Asn442Ser) have been observed in individuals with FKTN-related conditions (PMID: 28785732). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.
Baylor Genetics RCV003465937 SCV004199763 likely pathogenic Dilated cardiomyopathy 1X 2022-09-08 criteria provided, single submitter clinical testing

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