ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7436A>G (p.Asp2479Gly) (rs1555524796)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658450 SCV000780222 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ANKRD11 gene. The D2479G varianthas not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The D2479G variant is not observed in large population cohorts (Lek et al., 2016). TheD2479G variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. In-silicoanalyses, including protein predictors and evolutionary conservation, support a deleterious effect.Based on the currently available information, it is unclear whether this variant is a pathogenic variantor a rare benign variant

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