Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV003319957 | SCV004023395 | likely pathogenic | Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 | 2023-07-20 | criteria provided, single submitter | clinical testing | The variant has not been identified in the general population (gnomAD). It has not yet been described in the literature or in the ClinVar and dbSNP151 databases. (as of 07/10/2023) DA2A and DA2B3 underlie heterozygous pathogenic missense variants in the domain of the myosin head and neck in most cases. The alteration was not detected in the patient's parents, so it should be considered a de novo variant. Bioinformatically, the alteration is inconsistently classified as "probably disease-causing" (SIFT) or "benign" (PolyPhen2, mutation Taster). Therfore, the variant has been classified as "likely pathogenic" (ACMG criteria). |