ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) (rs150989902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519977 SCV000620258 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing The P1184L variant in the ADAMTS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 26/66740 (0.039%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The P1184L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P1184L as a variant of uncertain significance.
Invitae RCV000519977 SCV000647135 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing

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