Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507453 | SCV000603402 | uncertain significance | not specified | 2016-09-25 | criteria provided, single submitter | clinical testing | |
3billion | RCV002283486 | SCV002572567 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2022-09-01 | criteria provided, single submitter | clinical testing | This missense variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 0.97). A different missense change at the same codon (p.Arg2039His) has been reported to be associated with DYNC2H1 -related disorder (ClinVar ID: VCV000446568/ PMID: 29068549). However, as the evidence of pathogenicity is insufficient at this time, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |