ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu)

gnomAD frequency: 0.00003  dbSNP: rs752663857
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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 RCV000701309 SCV000830103 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 42 of the FKTN protein (p.Lys42Glu). This variant is present in population databases (rs752663857, gnomAD 0.02%). 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: 578333). 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 RCV004993969 SCV005581301 uncertain significance Cardiovascular phenotype 2024-09-04 criteria provided, single submitter clinical testing The p.K42E variant (also known as c.124A>G), located in coding exon 2 of the FKTN gene, results from an A to G substitution at nucleotide position 124. The lysine at codon 42 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000701309 SCV002078741 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-10-28 no assertion criteria provided clinical testing

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