ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)

gnomAD frequency: 0.00003  dbSNP: rs759936979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057060 SCV001221535 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-04-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 453 of the FKTN protein (p.Glu453Lys). This variant is present in population databases (rs759936979, gnomAD 0.007%). 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: 852451). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002379571 SCV002693157 uncertain significance Cardiovascular phenotype 2024-10-14 criteria provided, single submitter clinical testing The p.E453K variant (also known as c.1357G>A), located in coding exon 9 of the FKTN gene, results from a G to A substitution at nucleotide position 1357. The glutamic acid at codon 453 is replaced by lysine, an amino acid with similar properties. This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV002505614 SCV002816871 uncertain significance Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001057060 SCV002081991 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-04-14 no assertion criteria provided clinical testing

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