Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203386 | SCV001374549 | pathogenic | Townes syndrome | 2022-10-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 934902). This premature translational stop signal has been observed in individual(s) with clinical features of Townes-Borck syndrome (PMID: 9973281; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser141Alafs*42) in the SALL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SALL1 are known to be pathogenic (PMID: 9973281, 12915476, 16088922, 23069192). |