ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1945del (p.Ala649fs)

dbSNP: rs796065042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190363 SCV000243813 pathogenic not provided 2014-10-28 criteria provided, single submitter clinical testing c.1945delG: p.Ala649ProfsX83 in exon 6 in the AHDC1 gene (NM_001029882.2). The normal sequence with the base that is deleted in braces is: CCAG{G}CCCCCG. The c.1945delG variant in the AHDC1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.1945delG variant causes a frameshift starting with codon Alanine 649, changes this amino acid to a Proline residue and creates a premature Stop codon at position 83 of the new reading frame, denoted p.Ala649ProfsX83. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1945delG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1945delG as a pathogenic variant. This variant has been observed to be de novo with confirmed parentage. This variant was found in AHDC1 panel(s).
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001563688 SCV001480345 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion criteria provided clinical testing

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