ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)

dbSNP: rs1588222602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804630 SCV000944547 pathogenic Walker-Warburg congenital muscular dystrophy 2023-03-26 criteria provided, single submitter clinical testing 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.Phe390Ilefs*14) have been determined to be pathogenic (PMID: 17878207, 18177472, 18752264, 19266496, 27065010). 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: 649651). 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.Lys385*) in the FKTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acid(s) of the FKTN protein.
Baylor Genetics RCV003467404 SCV004199758 likely pathogenic Dilated cardiomyopathy 1X 2023-01-18 criteria provided, single submitter clinical testing

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