ClinVar Miner

Submissions for variant NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)

gnomAD frequency: 0.00001  dbSNP: rs1431830142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001290235 SCV001468619 likely pathogenic Tetralogy of Fallot 2021-01-09 criteria provided, single submitter curation This variant was reported as c.928C>T, p.(R310*) (NM_002941.3) in an individual (Proband 2) with tetralogy of Fallot and septal defects (PMID: 28592524 (kruszka2017)). Inheritance was reported as dominant (heterozygous) (de novo). The variant was reviewed according to current ACMG recommendations and classified as Likely Pathogenic (criteria: PVS1_VeryStrong, PS2_Moderate, PM2_Supporting) at the variant level; the gene-disease association is currently not established in curated databases.
GeneDx RCV001760327 SCV002008253 likely pathogenic not provided 2025-02-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28592524, 38325380)
Labcorp Genetics (formerly Invitae), Labcorp RCV001760327 SCV004293115 pathogenic not provided 2024-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg310*) in the ROBO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ROBO1 are known to be pathogenic (PMID: 29194579, 35227688). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with ventricular septal defect and congenital diaphragmatic hernia (PMID: 28592524). ClinVar contains an entry for this variant (Variation ID: 995977). For these reasons, this variant has been classified as Pathogenic.

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