ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val)

gnomAD frequency: 0.00004  dbSNP: rs201241062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646240 SCV000768003 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 744 of the ADAMTS2 protein (p.Ile744Val). This variant is present in population databases (rs201241062, gnomAD 0.01%). 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: 537402). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002530021 SCV003697226 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.2230A>G (p.I744V) alteration is located in exon 15 (coding exon 15) of the ADAMTS2 gene. This alteration results from a A to G substitution at nucleotide position 2230, causing the isoleucine (I) at amino acid position 744 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480736 SCV004227169 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000646240 SCV001458859 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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