ClinVar Miner

Submissions for variant NM_002941.4(ROBO1):c.2929del (p.Ala977fs)

dbSNP: rs1705825067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Developmental Genetics, Institut Pasteur RCV001257293 SCV001433839 pathogenic Pituitary stalk interruption syndrome 2020-04-01 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center 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.

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