ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.286C>A (p.Arg96Ser)

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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 RCV002948426 SCV003274906 uncertain significance not provided 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 96 of the ADAMTS10 protein (p.Arg96Ser). 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. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002948427 SCV003756809 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.286C>A (p.R96S) alteration is located in exon 4 (coding exon 2) of the ADAMTS10 gene. This alteration results from a C to A substitution at nucleotide position 286, causing the arginine (R) at amino acid position 96 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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