ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile)

gnomAD frequency: 0.00008  dbSNP: rs371598292
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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 RCV001050133 SCV001214227 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 632 of the ADAM17 protein (p.Val632Ile). This variant is present in population databases (rs371598292, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ADAM17-related conditions. ClinVar contains an entry for this variant (Variation ID: 846745). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261264 SCV002541787 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing

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