ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2059-76_3204del

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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 RCV001218015 SCV001389880 pathogenic Baller-Gerold syndrome 2019-05-14 criteria provided, single submitter clinical testing This variant is a complex sequence change that deletes the genomic region encompassing exons 13-17 and part of exon 18 and inserts 1 nucleotide in the RECQL4 gene (c.2059-79_3202delinsC). It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed to be homozygous in an individual affected with Baller-Gerold syndrome (BGS) (PMID: 28358413). This variant disrupts the p.Arg1021 amino acid residue in RECQL4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15897384, 15964893, 23899764, 24635570). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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