ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)

dbSNP: rs377417974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044487 SCV001208288 pathogenic Walker-Warburg congenital muscular dystrophy 2024-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg256*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with hyperCKemia (PMID: 24144914). ClinVar contains an entry for this variant (Variation ID: 842124). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002479277 SCV002796621 likely pathogenic Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-10-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473630 SCV004199720 pathogenic Dilated cardiomyopathy 1X 2024-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994200 SCV005581293 pathogenic Cardiovascular phenotype 2024-10-03 criteria provided, single submitter clinical testing The p.R256* pathogenic mutation (also known as c.766C>T), located in coding exon 5 of the FKTN gene, results from a C to T substitution at nucleotide position 766. This changes the amino acid from an arginine to a stop codon within coding exon 5. 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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