Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001915343 | SCV002170628 | uncertain significance | Inflammatory skin and bowel disease, neonatal, 1 | 2022-10-05 | 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"). ClinVar contains an entry for this variant (Variation ID: 1398998). This variant has not been reported in the literature in individuals affected with ADAM17-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 22 of the ADAM17 protein (p.Asp22Tyr). |
| Ambry Genetics | RCV004041687 | SCV004923485 | uncertain significance | Inborn genetic diseases | 2024-01-17 | criteria provided, single submitter | clinical testing | The c.64G>T (p.D22Y) alteration is located in exon 1 (coding exon 1) of the ADAM17 gene. This alteration results from a G to T substitution at nucleotide position 64, causing the aspartic acid (D) at amino acid position 22 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |