ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup)

dbSNP: rs533437573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002071194 SCV002329664 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003228051 SCV003924261 uncertain significance Weill-Marchesani 4 syndrome, recessive 2022-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.6% [240/41282]; https://gnomad.broadinstitute.org/variant/15-100109075-A-ACTCCTT?dataset=gnomad_r3), and in ClinVar (Variation ID: 1528321). This variant represents an in-frame insertion of 2 amino acids at position 642 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003968695 SCV004788505 likely benign ADAMTS17-related disorder 2024-07-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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