ClinVar Miner

Submissions for variant NM_152515.5(CKAP2L):c.501del (p.Asn167fs)

dbSNP: rs2104884982
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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 RCV001780787 SCV002022559 likely pathogenic Filippi syndrome 2020-03-25 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV001780787 SCV002556398 pathogenic Filippi syndrome 2021-04-06 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001780787 SCV002769456 pathogenic Filippi syndrome 2022-09-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Filippi syndrome (MIM#272440). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0252 - This variant is homozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0702 - Other null variants comparable to the one identified in this case have strong previous evidence for pathogenicity. At least five NMD-predicted variants have been classified as likely pathogenic or pathogenic (ClinVar). (SP) 0803 - This variant has limited previous evidence of pathogenicity in an unrelated individual. This variant has been classified as likely pathogenic by one clinical diagnostic laboratory (ClinVar). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1209 - This variant has been shown to be both maternally and paternally inherited (biallelic) (external diagnostic report). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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