Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001221907 | SCV001393976 | likely benign | Adams-Oliver syndrome 5 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005408758 | SCV006071647 | likely benign | not specified | 2025-03-14 | criteria provided, single submitter | clinical testing | Variant summary: NOTCH1 c.4136C>T (p.Thr1379Met) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-05 in 1586482 control chromosomes. The observed variant frequency is approximately 18.15 fold of the estimated maximal expected allele frequency for a pathogenic variant in NOTCH1 causing Adams-Oliver Syndrome 5 phenotype (6.3e-07). To our knowledge, no occurrence of c.4136C>T in individuals affected with Adams-Oliver Syndrome 5 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 950236). Based on the evidence outlined above, the variant was classified as likely benign. |