Submissions for variant NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)

dbSNP: rs80359857

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001208578	SCV001379973	pathogenic	not provided	2024-12-15	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg293Serfs*7) in the ESCO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ESCO2 are known to be pathogenic (PMID: 15821733, 16380922). This variant is present in population databases (rs771324896, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with Roberts syndrome (PMID: 15821733, 18411254, 19574259). ClinVar contains an entry for this variant (Variation ID: 21251). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002482893	SCV002786298	pathogenic	Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome	2024-04-18	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020413	SCV000040813	not provided	Roberts-SC phocomelia syndrome		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001208578	SCV001742106	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001208578	SCV001965598	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831589	SCV002083249	pathogenic	Roberts syndrome	2020-06-09	no assertion criteria provided	clinical testing