Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Developmental Genetics, |
RCV001257293 | SCV001433839 | pathogenic | Pituitary stalk interruption syndrome | 2020-04-01 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV001257293 | SCV001468614 | likely pathogenic | Pituitary stalk interruption syndrome | 2021-01-09 | criteria provided, single submitter | curation | This variant was reported as ENST00000464233:c.2928_2929delG,p.Ala977Glnfs*40 in an individual (Patient 1 (M); Patient 2 (F)) with Pituitary Stalk Interruption Syndrome (PMID: 28402530 (bashamboo2017)). Inheritance was reported as dominant (heterozygous) (paternal). The variant was reviewed according to current ACMG recommendations and classified as Likely Pathogenic (criteria: PVS1_VeryStrong, PM2_Supporting) at the variant level; the gene-disease association is currently not established in curated databases. |