ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter)

dbSNP: rs2130712164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001449646 SCV003500194 pathogenic Baller-Gerold syndrome 2022-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln415*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1120018). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency).
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) RCV001449646 SCV001652690 likely pathogenic Baller-Gerold syndrome 2021-01-05 no assertion criteria provided clinical testing

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