ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.3116A>C (p.His1039Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002577622 SCV002936077 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1039 of the ADAMTS10 protein (p.His1039Pro). This variant is present in population databases (rs566999321, gnomAD 0.01%). 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 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.

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