ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser)

gnomAD frequency: 0.00001  dbSNP: rs148983888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346142 SCV001540317 uncertain significance Inflammatory skin and bowel disease, neonatal, 1 2020-03-08 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. 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: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with ADAM17-related conditions. This variant is present in population databases (rs148983888, ExAC 0.003%). This sequence change replaces proline with serine at codon 356 of the ADAM17 protein (p.Pro356Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
Ambry Genetics RCV002547052 SCV003621635 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.1066C>T (p.P356S) alteration is located in exon 9 (coding exon 9) of the ADAM17 gene. This alteration results from a C to T substitution at nucleotide position 1066, causing the proline (P) at amino acid position 356 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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