ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)

gnomAD frequency: 0.00102  dbSNP: rs143764421
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325268 SCV000456881 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000585584 SCV000534338 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Invitae RCV000325268 SCV000647141 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585584 SCV000693200 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ADAMTS2: BP4
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278602 SCV002566001 uncertain significance Ehlers-Danlos syndrome 2018-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000325268 SCV001462993 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-07 no assertion criteria provided clinical testing

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