ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.810+1G>A

gnomAD frequency: 0.00001  dbSNP: rs387906266
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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 RCV003555895 SCV004298002 likely pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects a donor splice site in intron 6 of the ADAMTS10 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ADAMTS10 are known to be pathogenic (PMID: 15368195, 18567016). This variant is present in population databases (rs387906266, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with Weill-Marchesani syndrome (PMID: 15368195). ClinVar contains an entry for this variant (Variation ID: 1946).
OMIM RCV000002023 SCV000022181 pathogenic Weill-Marchesani syndrome 1 2004-11-01 no assertion criteria provided literature only

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