ClinVar Miner

Submissions for variant NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter)

gnomAD frequency: 0.00001  dbSNP: rs137853041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414489 SCV000491233 pathogenic not provided 2016-11-03 criteria provided, single submitter clinical testing The R164X variant in the ADAM9 gene has been reported previously as a homozygous variant in three siblings with cone-rod dystrophy (Parry et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R164X variant was not observed at any significant frequency 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. We interpret R164X as a pathogenic variant.
OMIM RCV000007281 SCV000027477 pathogenic Cone-rod dystrophy 9 2009-05-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV002267719 SCV001160879 pathogenic Cone-rod dystrophy 2019-06-23 no assertion criteria provided research

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