ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.731A>G (p.His244Arg)

gnomAD frequency: 0.00001  dbSNP: rs774796040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003176786 SCV003857383 uncertain significance Cardiovascular phenotype 2023-02-08 criteria provided, single submitter clinical testing The p.H244R variant (also known as c.731A>G), located in coding exon 5 of the FKTN gene, results from an A to G substitution at nucleotide position 731. The histidine at codon 244 is replaced by arginine, 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.
GeneDx RCV005363080 SCV005921612 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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