ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg)

gnomAD frequency: 0.00001  dbSNP: rs141541318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695602 SCV000824112 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1168 of the ADAMTS2 protein (p.His1168Arg). This variant is present in population databases (rs141541318, gnomAD 0.002%). 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: 573832). 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 tolerated. 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 RCV002532312 SCV003722180 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.3503A>G (p.H1168R) alteration is located in exon 22 (coding exon 22) of the ADAMTS2 gene. This alteration results from a A to G substitution at nucleotide position 3503, causing the histidine (H) at amino acid position 1168 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000695602 SCV002081882 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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