ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp)

dbSNP: rs371776972
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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 RCV002044478 SCV002116904 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 373 of the FKTN protein (p.Glu373Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs371776972, ExAC 0.01%). This variant has not been reported in the literature in individuals with FKTN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002440908 SCV002749927 uncertain significance Cardiovascular phenotype 2023-11-17 criteria provided, single submitter clinical testing The p.E373D variant (also known as c.1119A>C), located in coding exon 8 of the FKTN gene, results from an A to C substitution at nucleotide position 1119. The glutamic acid at codon 373 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, aspartic acid is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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