ClinVar Miner

Submissions for variant NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144993 SCV003830679 uncertain significance Filippi syndrome 2019-02-13 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003144993 SCV004047757 uncertain significance Filippi syndrome criteria provided, single submitter clinical testing The missense variant c.1283A>G (p.Gln428Arg) in CKAP2L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln428Arg variant is reported as 0.01% in gnomAD exomes and not present in 1000 Genome database. The amino acid Gln at position 428 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance .
Ambry Genetics RCV004246120 SCV004928849 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.1283A>G (p.Q428R) alteration is located in exon 4 (coding exon 4) of the CKAP2L gene. This alteration results from a A to G substitution at nucleotide position 1283, causing the glutamine (Q) at amino acid position 428 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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