Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851990 | SCV002244711 | pathogenic | Juvenile polyposis syndrome | 2021-11-14 | 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: 24842). This premature translational stop signal has been observed in individual(s) with juvenile polyposis syndrome (PMID: 10797267, 22316667). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln388*) in the SMAD4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 16152648, 16436638, 22810475). |
Gene |
RCV000021723 | SCV000041149 | not provided | Generalized juvenile polyposis/juvenile polyposis coli | no assertion provided | literature only |