ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)

gnomAD frequency: 0.00004  dbSNP: rs1283976400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818820 SCV000959454 benign KBG syndrome 2024-02-05 criteria provided, single submitter clinical testing
GeneDx RCV001664438 SCV001875196 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537436 SCV003687890 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.6436A>G (p.K2146E) alteration is located in exon 9 (coding exon 7) of the ANKRD11 gene. This alteration results from a A to G substitution at nucleotide position 6436, causing the lysine (K) at amino acid position 2146 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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