ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys)

gnomAD frequency: 0.00002  dbSNP: rs150852885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403101 SCV000345826 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001056380 SCV001220821 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 438 of the FKTN protein (p.Arg438Cys). This variant is present in population databases (rs150852885, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221, 32746448). ClinVar contains an entry for this variant (Variation ID: 291125). 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: "Benign"; 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.
GeneDx RCV000403101 SCV001771864 uncertain significance not provided 2022-06-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Identified in patients with dilated cardiomyopathy (Mazzarotto et al., 2020; Burstein et al., 2021); This variant is associated with the following publications: (PMID: 31983221, 32746448)
Mayo Clinic Laboratories, Mayo Clinic RCV000403101 SCV002541007 uncertain significance not provided 2021-05-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001056380 SCV002081986 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-10-28 no assertion criteria provided clinical testing

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