ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2213G>A (p.Arg738His)

gnomAD frequency: 0.00001  dbSNP: rs538865826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948769 SCV002211123 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 738 of the ADAM17 protein (p.Arg738His). This variant has not been reported in the literature in individuals affected with ADAM17-related conditions. This variant is present in population databases (rs538865826, gnomAD 0.002%). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1437601).

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