ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.1668_1674del (p.Leu557fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002620566 SCV003506312 pathogenic not provided 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu557Lysfs*26) in the CDK5RAP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDK5RAP2 are known to be pathogenic (PMID: 15793586, 20460369, 26436113). This variant is present in population databases (rs775170271, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CDK5RAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2188880). For these reasons, this variant has been classified as Pathogenic.

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