ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2390del (p.Asp797fs)

dbSNP: rs2124947949
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002221389 SCV002498620 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2021-07-02 criteria provided, single submitter clinical testing This sequence change is a deletion of 1 bp in exon 19 (of 19) of ADAM17 that is predicted to cause loss of the termination codon and elongate the protein by 28 amino acids creating a termination codon at position 853 (p.(Asp797Alafs*57)). Loss of function is the mechanism of disease for this gene (PMID: 22010916, 29560122, 26683521, 25804906). The variant is absent in a large population cohort (gnomAD v2.1 and v3.1), and has not been reported in the relevant medical literature of databases. Based on the classification scheme RMH Modified ACMG Guidelines v1.4.0, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PVS1_Moderate, PM2_Supporting.

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