ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del)

dbSNP: rs765659887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478162 SCV000572557 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ADAMTS2 gene. The c.2842_2844delGAC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2842_2844delGAC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.2842_2844delGAC variant results in the deletion of an Aspartic acid residue at codon 948 in the ADAMTS2 gene. However, as this is an in-frame deletion, it is not expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000800553 SCV000940277 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-09-02 criteria provided, single submitter clinical testing This variant, c.2842_2844del, results in the deletion of 1 amino acid(s) of the ADAMTS2 protein (p.Asp948del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765659887, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 422952). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000800553 SCV002081912 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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