Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526065 | SCV005040473 | uncertain significance | not specified | 2024-03-28 | criteria provided, single submitter | clinical testing | Variant summary: COL4A3 c.971G>A (p.Gly324Asp) 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 2.4e-05 in 249354 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.971G>A has been reported in the literature in individuals affected with Alport Syndrome, Autosomal Recessive (Shang_2019). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 31144478). ClinVar contains an entry for this variant (Variation ID: 830019). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV005029577 | SCV005655872 | likely pathogenic | Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive | 2024-04-03 | criteria provided, single submitter | clinical testing | |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029987 | SCV001192789 | likely pathogenic | Autosomal dominant Alport syndrome | 2019-10-08 | no assertion criteria provided | clinical testing |