ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.1183G>A (p.Gly395Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002638656 SCV002969227 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 395 of the ADAMTS10 protein (p.Gly395Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ADAMTS10-related conditions. 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.
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute RCV003308202 SCV004009556 likely pathogenic Weill-Marchesani syndrome 1 2023-06-29 criteria provided, single submitter clinical testing

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