ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys)

dbSNP: rs1204442125
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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 RCV000818472 SCV000959087 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2022-02-25 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects ADAM17 function (PMID: 31060243). 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 661121). This variant has not been reported in the literature in individuals affected with ADAM17-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 177 of the ADAM17 protein (p.Arg177Cys).

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