ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)

dbSNP: rs1308509155
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314001 SCV004013546 pathogenic Brachydactyly type B1 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with ROR2 related disorder (ClinVar ID: VCV000983455 / PMID: 10932186). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV003433099 SCV004160113 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing ROR2: PVS1, PM2, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003433099 SCV004294334 pathogenic not provided 2023-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg397*) in the ROR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ROR2 are known to be pathogenic (PMID: 10932186). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Robinow syndrome (PMID: 10932187). ClinVar contains an entry for this variant (Variation ID: 983455). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003433099 SCV005201943 pathogenic not provided 2023-04-03 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; Not observed at significant frequency in large population cohorts (gnomAD); Also known as R396X; This variant is associated with the following publications: (PMID: 25525159, 10932186, 35344616, 10932187)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001353124 SCV001441489 pathogenic Autosomal recessive Robinow syndrome 2020-04-02 no assertion criteria provided research

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