ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.2421G>T (p.Glu807Asp)

dbSNP: rs545953920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351271 SCV001545722 uncertain significance not provided 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 807 of the ADAMTS10 protein (p.Glu807Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADAMTS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1046680). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
3billion RCV004720308 SCV005328771 likely benign Weill-Marchesani syndrome 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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