ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val)

dbSNP: rs543684877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000322429 SCV000337549 uncertain significance not provided 2015-11-13 criteria provided, single submitter clinical testing
Invitae RCV000802878 SCV000942725 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 417 of the FKTN protein (p.Glu417Val). This variant is not present in population databases (gnomAD no frequency). 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: 284792). 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. 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 RCV002411151 SCV002673249 uncertain significance Cardiovascular phenotype 2021-12-24 criteria provided, single submitter clinical testing The p.E417V variant (also known as c.1250A>T), located in coding exon 9 of the FKTN gene, results from an A to T substitution at nucleotide position 1250. The glutamic acid at codon 417 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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