ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) (rs1057524401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764597 SCV000895694 uncertain significance Ehlers-Danlos syndrome, type vii, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000431296 SCV000535468 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing The A37V variant of uncertain significance in the ADAMTS2 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Data from control individuals was not available to assess whether A37V may be a common benign variant in the general population. The A37V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position that is not conserved, where V37 is the native residue in at least one species. In silico analysis predicts this variant likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.

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