Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000001048 | SCV000800573 | uncertain significance | Xeroderma pigmentosum group A | 2017-08-01 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000001048 | SCV004206953 | likely pathogenic | Xeroderma pigmentosum group A | 2023-05-30 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005055500 | SCV005725887 | likely pathogenic | Xeroderma pigmentosum | 2024-11-29 | criteria provided, single submitter | clinical testing | Variant summary: XPA c.323G>T (p.Cys108Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250364 control chromosomes. c.323G>T has been reported in the literature in the compound heterozygous state in at least one individual affected with Xeroderma Pigmentosum (Satokata_1992). Multiple publications report experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in absent activity (Miura_1999, Van Den Heuvel_2023, Satokata_1992). The following publications have been ascertained in the context of this evaluation (PMID: 10408173, 1339397, 36893274). ClinVar contains an entry for this variant (Variation ID: 993). Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| OMIM | RCV000001048 | SCV000021198 | pathogenic | Xeroderma pigmentosum group A | 1992-03-01 | no assertion criteria provided | literature only |