ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6688_6689del (p.Arg2230fs)

dbSNP: rs1597436476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008272 SCV001168038 pathogenic not provided 2018-07-26 criteria provided, single submitter clinical testing The c.6688_6689delAG variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant to our knowledge. The c.6688_6689delAG variant causes a frameshift starting with codon Arginine 2230, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Arg2230GlyfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6688_6689delAG variant is not observed in large population cohorts (Lek et al., 2016). The presence of this pathogenic variant is consistent with the diagnosis of an ANKRD11-related disorder in this individual.
Labcorp Genetics (formerly Invitae), Labcorp RCV005093048 SCV005845780 pathogenic KBG syndrome 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2230Glyfs*29) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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