ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile)

dbSNP: rs1060501407
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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 RCV000467420 SCV000546099 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 74 of the FKTN protein (p.Leu74Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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. 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 RCV002429495 SCV002728736 uncertain significance Cardiovascular phenotype 2020-06-29 criteria provided, single submitter clinical testing The p.L74I variant (also known as c.220C>A), located in coding exon 3 of the FKTN gene, results from a C to A substitution at nucleotide position 220. The leucine at codon 74 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144266 SCV003832661 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing

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