ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.787C>G (p.Leu263Val)

gnomAD frequency: 0.00002  dbSNP: rs770440134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822433 SCV000963234 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 263 of the FKTN protein (p.Leu263Val). This variant is present in population databases (rs770440134, gnomAD 0.0009%). 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: 664350). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FKTN protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004619435 SCV005118151 uncertain significance Cardiovascular phenotype 2024-06-17 criteria provided, single submitter clinical testing The p.L263V variant (also known as c.787C>G), located in coding exon 6 of the FKTN gene, results from a C to G substitution at nucleotide position 787. The leucine at codon 263 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000822433 SCV002079599 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-14 no assertion criteria provided clinical testing

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