ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) (rs202197821)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376606 SCV000456885 uncertain significance Ehlers-Danlos syndrome dermatosparaxis type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000659043 SCV000581874 uncertain significance not provided 2018-12-19 criteria provided, single submitter clinical testing The D237A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 23/126402 (0.02%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Nevertheless, the D237A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659043 SCV000780847 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000376606 SCV000895692 uncertain significance Ehlers-Danlos syndrome dermatosparaxis type 2018-10-31 criteria provided, single submitter clinical testing

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