ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile)

gnomAD frequency: 0.00673  dbSNP: rs61754177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649854 SCV000771688 benign Inflammatory skin and bowel disease, neonatal, 1 2025-02-03 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000649854 SCV003920636 likely benign Inflammatory skin and bowel disease, neonatal, 1 2022-07-12 criteria provided, single submitter clinical testing This variant has been reported in the literature in association with inflammatory bowel disease (Gettler 2021 PMID:33359885). However, this variant is present in the Genome Aggregation Database (Highest reported MAF 1.2% (196/15286) including multiple homozygotes (https://gnomad.broadinstitute.org/variant/2-9492963-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:539952). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV004708978 SCV005240498 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980263 SCV004797765 benign ADAM17-related disorder 2019-06-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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