ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys)

dbSNP: rs1567537304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761964 SCV000892192 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272345 SCV002556736 uncertain significance KBG syndrome 2021-05-10 criteria provided, single submitter clinical testing The ANKRD11 c.7753C>T variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2, PP3) The ANKRD11 c.7753C>T variant is a single nucleotide change in exon 13 of the ANKRD11 gene, which is predicted to change the amino acid arginine at position 2585 in the protein to cysteine. This variant has not been reported in dbSNP and is absent from population databases (PM2). This variant has been reported in ClinVar as a variant of uncertain significance (ClinVar Variation ID: 613051). This variant has not been reported in HGMD. Computational predictions support a deleterious effect on the gene or gene product (PP3).
GeneDx RCV000761964 SCV003762084 pathogenic not provided 2023-01-22 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (PMID: 35833929); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35833929, 36446582)

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