ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)

dbSNP: rs1597389370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003313983 SCV001140190 likely pathogenic KBG syndrome 2024-07-13 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV003313983 SCV004013514 uncertain significance KBG syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.78). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with ANKRD11 related disorder (ClinVar ID: VCV000803285). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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