ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.871del (p.Ala291fs) (rs1389647533)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537554 SCV000631218 pathogenic Baller-Gerold syndrome 2018-06-26 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 5 of the RECQL4 mRNA (c.871delG), causing a frameshift at codon 291. This creates a premature translational stop signal (p.Ala291Leufs*2) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported 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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