Submissions for variant NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)

dbSNP: rs34134064

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000539216	SCV000630992	pathogenic	Baller-Gerold syndrome	2023-11-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys389Phefs*33) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). This variant is present in population databases (rs34134064, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 459307). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	RCV001523816	SCV001478176	pathogenic	Rothmund-Thomson syndrome type 2	2020-12-15	criteria provided, single submitter	research
Sema4, Sema4	RCV002257792	SCV002527794	likely pathogenic	Hereditary cancer-predisposing syndrome	2021-04-04	criteria provided, single submitter	curation
Neuberg Centre For Genomic Medicine, NCGM	RCV001523816	SCV004171879	likely pathogenic	Rothmund-Thomson syndrome type 2		criteria provided, single submitter	clinical testing