Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics, |
RCV001194652 | SCV001337652 | pathogenic | Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2020-06-14 | no assertion criteria provided | clinical testing | The affected amino acid is highly conserved across species. It is located in the actuator domain of the protein, next to a potential p97/VCP binding site (24). The pathogenic variant was not found in several databases (GnomAD, Ensembl, ClinVar, dbSNP). It was predicted deleterious by four softwares (SIFT, Polyphen, UMDP, GERP). Familial segregation showed that the pathogenic variant was not present in the asymptomatic sister of the patient, but as both of his parents were dead familial analyses could not be pursued.2015 ACMG criteria for variant classification are : PM1, PM2, PM3, PM6, PP3, PP4. Classification of the variant is 4 : likely pathogenic. |