ClinVar Miner

Submissions for variant NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys)

gnomAD frequency: 0.00001  dbSNP: rs761627940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001257122 SCV001433645 uncertain significance Microcephaly 16, primary, autosomal recessive 2019-11-26 criteria provided, single submitter clinical testing This variant has been identified in a patient with severe microcephaly who also carries an ANKLE2 nonsense variant on the opposite chromosome. ANKLE2 c.1606C>T (rs761627940) is rare (<0.1%) in a large population dataset4 (gnomAD: 2/247698 total alleles; 0.0008%; no homozygotes). Of three bioinformatics tools queried, one predicts that the substitution would be deleterious, while two predict that it would be tolerated. The arginine residue at this position is evolutionarily conserved across most species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.1606C>T to be uncertain at this time
OMIM RCV001257122 SCV003841113 pathogenic Microcephaly 16, primary, autosomal recessive 2023-02-24 no assertion criteria provided literature only

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