ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3277del (p.Asp1093fs) (rs1356876749)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634275 SCV000755578 pathogenic Baller-Gerold syndrome 2017-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1093Metfs*57) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with pathogenic variants in RECQL4 in individuals affected with Rothmund-Thomson syndrome (PMID: 12734318). This variant is also known as g.5726delG in the literature. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.

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