ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1400T>A (p.Val467Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994690 SCV004812653 uncertain significance KBG syndrome 2024-02-05 criteria provided, single submitter clinical testing This sequence change in ANKRD11 is predicted to replace valine with aspartic acid at codon 467, p.(Val467Asp). The valine residue is highly conserved (100 vertebrates, Multiz Alignments). There is a large physicochemical difference between valine and aspartic acid. The highest population minor allele frequency in the population database gnomAD v4.0 is 0.0005% (6/1,112,004 alleles) in the European (non-Finnish) population. To our knowledge, this variant has not been previously reported in the relevant scientific literature or databases. Computational evidence is uninformative for the missense substitution (REVEL = 0.356). Based on the classification scheme RMH Modified ACMG Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: none.

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