ClinVar Miner

Submissions for variant NM_001029882.3(AHDC1):c.1169del (p.Pro390fs) (rs1553159575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657552 SCV000779288 likely pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The c.1169delC variant in the AHDC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1169delC variant causes a frameshift starting with codon Proline 390, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 62 of the new reading frame, denoted p.Pro390GlnfsX62. This variant is predicted to cause loss of normal protein function through protein truncation as the last 1214 amino acids are lost and replaced with 61 incorrect amino acids. The c.1169delC variant is not observed in large population cohorts (Lek et al., 2016).
GenomeConnect, ClinGen RCV000844951 SCV000986775 not provided Xia-Gibbs syndrome no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 05/14/2018 by GTR ID 26957. 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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