ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.181del (p.Leu61fs)

dbSNP: rs1554317002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623626 SCV000741641 pathogenic Inborn genetic diseases 2023-08-16 criteria provided, single submitter clinical testing The c.181delC (p.L61Wfs*80) alteration, located in exon 1 (coding exon 1) of the CDK13 gene, consists of a deletion of one nucleotide at position 181, causing a translational frameshift with a predicted alternate stop codon after 80 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in one individual with features consistent with CDK13-related neurodevelopmental disorder (Lee, 2020). Based on the available evidence, this alteration is classified as pathogenic.
Undiagnosed Diseases Network, NIH RCV000791281 SCV000930573 likely pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2019-03-07 criteria provided, single submitter clinical testing

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