ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)

dbSNP: rs1586824938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804036 SCV000943927 pathogenic Baller-Gerold syndrome 2023-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu215Glyfs*9) 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 variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 649166). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002477843 SCV002779863 likely pathogenic Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 2022-05-05 criteria provided, single submitter clinical testing

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