ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr)

gnomAD frequency: 0.00008  dbSNP: rs375942302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092528 SCV001249070 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001314029 SCV001504543 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2024-09-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 693 of the ADAM17 protein (p.Cys693Tyr). This variant is present in population databases (rs375942302, gnomAD 0.02%). 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: 872195). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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