ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2691del (p.Val898fs)

dbSNP: rs886041676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000371677 SCV000330401 pathogenic not provided 2016-04-06 criteria provided, single submitter clinical testing The c.2691delA pathogenic variant in the AHDC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This frameshift pathogenic variant replaces the typical last 706 amino acid residues in the AHDC1 protein with 33 different amino acid residues. This change is expected to alter the normal structure and function of the resultant protein. The AHDC1 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001563693 SCV001480354 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion criteria provided clinical testing

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