ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.287_300dup (p.Ser101fs)

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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 RCV003038505 SCV003330361 pathogenic Baller-Gerold syndrome 2022-07-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs761801479, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser101Glyfs*18) 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 has not been reported in the literature in individuals affected with RECQL4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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