Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556103 | SCV004294883 | uncertain significance | not provided | 2023-02-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 41173). Disruption of the initiator codon has been observed in individual(s) with pituitary adenoma (PMID: 21546764, 26186299, 26792934). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the AIP mRNA. The next in-frame methionine is located at codon 60. |
Gene |
RCV000034072 | SCV000058002 | not provided | Somatotroph adenoma | no assertion provided | literature only |