ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)

dbSNP: rs1555528356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656734 SCV000778311 likely pathogenic KBG syndrome 2018-04-06 no assertion criteria provided clinical testing The observed variant c.3706C>T (p.Gln1236Ter) is not reported in 1000 Genomes and ExAC databases. The in silico prediction is disease causing by MutationTaster2.
The Purple Gene Clinic, Mumbai RCV000656734 SCV005045666 likely pathogenic KBG syndrome 2024-05-29 no assertion criteria provided clinical testing This sequence change creates a stop codon and results in premature protein truncation in the ANKRD11 gene. This variant is absent in gnomAD database. This variant has not been reported in the literature in individuals with ANKRD11-related conditions. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 38515699, 37800809, 37226940). For these reasons, this variant has been classified as likely pathogenic.

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