ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2086-3C>T

gnomAD frequency: 0.00003  dbSNP: rs756427989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242896 SCV001416015 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-06-01 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ADAMTS2 gene. It does not directly change the encoded amino acid sequence of the ADAMTS2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs756427989, gnomAD 0.1%). 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: 967882). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Baylor Genetics RCV001242896 SCV001527687 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2018-09-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003963149 SCV004778090 likely benign ADAMTS2-related condition 2019-09-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001242896 SCV002081936 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-03-11 no assertion criteria provided clinical testing

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