Submissions for variant NM_152515.5(CKAP2L):c.77A>G (p.Lys26Arg)

gnomAD frequency: 0.00324  dbSNP: rs35593767

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000482012	SCV000570809	uncertain significance	not provided	2016-06-27	criteria provided, single submitter	clinical testing	The K26R variant in the CKAP2L gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The NHLBI ESP Exome Sequencing Project reports that K26Rwas observed in 49/4406 alleles (1.11%) from individuals of African American ancestry, indicating itmay be a rare benign variant in this population. The variant was not present in the homozygous statewithin this population, though the 1000 Genomes Database reports K26R was observed once in thehomozygous state in approximately 600 individuals of African background (McVean et al., 2012). TheK26R variant is a conservative amino acid substitution, which is not likely to impact secondaryprotein structure as these residues share similar properties. However, this substitution occurs at aposition that is conserved in mammals, and in silico analysis predicts this variant is probably damagingto the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000482012	SCV001118558	benign	not provided	2023-08-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000482012	SCV004149047	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CKAP2L: BS1, BS2