ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter)

dbSNP: rs886042019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000269007 SCV000330854 pathogenic not provided 2017-07-11 criteria provided, single submitter clinical testing The Q2412X pathogenic variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2412X 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. We interpret Q2412X as a pathogenic variant
Revvity Omics, Revvity RCV003129819 SCV003813438 likely pathogenic KBG syndrome 2022-05-05 criteria provided, single submitter clinical testing

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