ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2993G>A (p.Trp998Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079092 SCV003459810 pathogenic Baller-Gerold syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp998*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 28825054). ClinVar contains an entry for this variant (Variation ID: 2152053). For these reasons, this variant has been classified as Pathogenic.

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