Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV006646554 | SCV007539959 | uncertain significance | Arthrogryposis, distal, type 1A | 2025-10-04 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Missense variant In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.88 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.97 (> 0.75, sensitivity 0.96 and precision 0.92)]. A different missense change at the same codon (p.Arg90His) has been reported to be associated with TPM2-related disorder (ClinVar ID: VCV000617588). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance (PM2_M, PM5_P, PP3_P) according to the recommendation of ACMG/AMP guideline. |
| Greenwood Genetic Center Diagnostic Laboratories, |
RCV002280288 | SCV002568308 | uncertain significance | not provided | 2022-04-27 | criteria provided, single submitter | clinical testing | PM2, PP3 |