ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3702_3705del (p.Lys1235fs) (rs1555528357)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497944 SCV000590019 pathogenic not provided 2017-05-17 criteria provided, single submitter clinical testing The c.3702_3705delTAAA variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3702_3705delTAAA variant causes a frameshift starting with codon Lysine 1235, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 82 of the new reading frame, denoted p.Lys1235ArgfsX82. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3702_3705delTAAA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3702_3705delTAAA as a pathogenic variant.
Ambry Genetics RCV000622482 SCV000741839 pathogenic Inborn genetic diseases 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: NEGATIVE - No Relevant Alterations Detected (Step 1)

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