Total submissions: 2
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, |
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. |