ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1870+2364dup (rs1475605360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479723 SCV000570070 likely pathogenic not provided 2017-06-09 criteria provided, single submitter clinical testing The c.1958dupA variant in the DEPDC5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1958dupA variant causes a frameshift starting with codon Histidine 653, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.His653GlnfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1958dupA variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1958dupA variant is a strong candidate for a pathogenic variant, consistent with the global developmental delay and autism spectrum disorder. However, the possibility it may be a rare benign variant cannot be excluded.
GenomeConnect, ClinGen RCV000509382 SCV000606963 not provided DEPDC5-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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