ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.1801G>A (p.Glu601Lys)

gnomAD frequency: 0.00239  dbSNP: rs115020236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515083 SCV000609977 likely benign not provided 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000515083 SCV001049436 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV000515083 SCV005685227 uncertain significance not provided 2024-05-26 criteria provided, single submitter clinical testing A KANK1 c.1801G>A (p.Glu601Lys) variant was identified. This variant, to our knowledge, has not been reported in the medical literature. It is observed on 225/282,634 alleles in the general population (gnomAD v.2.1.1). This variant has been reported in the ClinVar database as a germline variant and classified as likely benign by two submitters (ClinVar ID: 445518). Computational predictors are uncertain as to the impact of this variant on CUBN function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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