Submissions for variant NM_001079802.2(FKTN):c.506A>G (p.His169Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002351449	SCV002645931	uncertain significance	Cardiovascular phenotype	2019-12-13	criteria provided, single submitter	clinical testing	The p.H169R variant (also known as c.506A>G), located in coding exon 4 of the FKTN gene, results from an A to G substitution at nucleotide position 506. The histidine at codon 169 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, arginine is the reference amino acid in other 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224628	SCV003919967	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 without intellectual disability), type B4	2021-03-30	criteria provided, single submitter	clinical testing	FKTN NM_001079802.1 exon 6 p.His169Arg (c.506A>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.