ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1124_1128del (p.Thr375fs)

dbSNP: rs1555529864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599304 SCV000710272 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing The c.1124_1128delCGAAA variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1124_1128delCGAAA variant causes a frameshift starting with codon Threonine 375, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Thr375IlefsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1124_1128delCGAAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1124_1128delCGAAA as a pathogenic variant.

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