ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.711C>G (p.His237Gln)

gnomAD frequency: 0.00001  dbSNP: rs562170364
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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 RCV001071396 SCV001236700 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 237 of the FKTN protein (p.His237Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. 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.
Fulgent Genetics, Fulgent Genetics RCV002482142 SCV002797603 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 2021-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030789 SCV005037357 uncertain significance Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing The p.H237Q variant (also known as c.711C>G), located in coding exon 5 of the FKTN gene, results from a C to G substitution at nucleotide position 711. The histidine at codon 237 is replaced by glutamine, an amino acid with highly similar 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.
Natera, Inc. RCV001071396 SCV002079595 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-07 no assertion criteria provided clinical testing

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