ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)

gnomAD frequency: 0.00001  dbSNP: rs764356904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003640943 SCV001096644 benign KBG syndrome 2023-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987746 SCV004804194 uncertain significance not specified 2024-01-05 criteria provided, single submitter clinical testing Variant summary: ANKRD11 c.3869A>G (p.His1290Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251470 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3869A>G in individuals affected with KBG Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 771092). Based on the evidence outlined above, the variant was classified as uncertain significance.

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