ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)

gnomAD frequency: 0.00019  dbSNP: rs200371613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000576627 SCV000678239 uncertain significance Weill-Marchesani 4 syndrome, recessive 2021-12-22 criteria provided, single submitter clinical testing ADAMTS17 NM_139057 exon 13 p.Leu623Pro (c.1868T>C): This variant has not been previously reported in the literature but has been identified in 46/33582 Latino chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200371613). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853827 SCV002207202 uncertain significance not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 623 of the ADAMTS17 protein (p.Leu623Pro). This variant is present in population databases (rs200371613, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ADAMTS17-related conditions. ClinVar contains an entry for this variant (Variation ID: 487472). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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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