Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000001050 | SCV000789455 | pathogenic | Xeroderma pigmentosum group A | 2017-02-01 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000001050 | SCV000894457 | pathogenic | Xeroderma pigmentosum group A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781924 | SCV000920350 | pathogenic | Xeroderma pigmentosum | 2018-12-03 | criteria provided, single submitter | clinical testing | Variant summary: XPA c.682C>T (p.Arg228X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00034 in 276474 control chromosomes (gnomAD). c.682C>T has been reported in the literature in multiple individuals affected with Xeroderma Pigmentosum (Messaoud_2010, Kindil_2017). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submissions (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV000815514 | SCV000955973 | pathogenic | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg228*) in the XPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the XPA protein. This variant is present in population databases (rs104894132, gnomAD 0.3%). This premature translational stop signal has been observed in individuals with xeroderma pigmentosum (PMID: 8105686, 20534089, 26743599, 27413738, 27607234, 29208038). It is commonly reported in individuals of North African ancestry (PMID: 8105686, 20534089, 26743599, 27413738, 27607234, 29208038). ClinVar contains an entry for this variant (Variation ID: 995). For these reasons, this variant has been classified as Pathogenic. |
| 3billion | RCV000001050 | SCV002058781 | pathogenic | Xeroderma pigmentosum group A | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000000995, PMID:8105686, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000337, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Baylor Genetics | RCV000001050 | SCV004206945 | pathogenic | Xeroderma pigmentosum group A | 2024-03-16 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000001050 | SCV000021200 | pathogenic | Xeroderma pigmentosum group A | 1995-11-01 | no assertion criteria provided | literature only | |
| Gene |
RCV000001050 | SCV000320722 | not provided | Xeroderma pigmentosum group A | no assertion provided | literature only |