ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs)

gnomAD frequency: 0.00001  dbSNP: rs1257938701
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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 RCV001223688 SCV001395847 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2019-07-17 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 and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with ADAM17-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the ADAM17 gene (p.Arg725Thrfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 100 amino acids of the ADAM17 protein.

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