ClinVar Miner

Submissions for variant NM_001029882.3(AHDC1):c.1167del (p.Arg389fs) (rs1553159581)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657526 SCV000779262 likely pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The c.1167delG variant in the AHDC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1167delG variant causes a frameshift starting with codon Arginine 389, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Arg389SerfsX63. This variant is predicted to cause loss of normal protein function through protein truncation as the last 1215 amino acids are lost and replaced with 62 incorrect amino acids. The c.1167delG variant is not observed in large population cohorts (Lek et al., 2016).
GenomeConnect, ClinGen RCV000844950 SCV000986774 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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