ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) (rs886042778)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000398696 SCV000336520 pathogenic not provided 2015-10-27 criteria provided, single submitter clinical testing
Invitae RCV000559941 SCV000630816 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-09-20 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FKTN gene (p.Pro440Leufs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acids of the FKTN protein and extend the protein by an additional 9 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with left ventricular noncompaction (PMID: 28798025). This variant is also known as g.108397472 G > GCT  in the literature. ClinVar contains an entry for this variant (Variation ID: 284055). This variant disrupts a region of the protein in which other variants (p.Asn442Ser, p.Asp455Metfs*12) have been observed in affected individuals (PMID: 28785732, 17044012). This suggests that this may be a clinically significant region of the FKTN protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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