ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe)

dbSNP: rs780850654
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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 RCV001046669 SCV001210582 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2019-01-28 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 800 of the ADAM17 protein (p.Val800Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ADAM17-related conditions. This variant is present in population databases (rs780850654, ExAC 0.006%).

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