ClinVar Miner

Submissions for variant NC_000008.10:g.(?_145736809)_(145739655_?)del

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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 RCV000708518 SCV000837628 pathogenic Baller-Gerold syndrome 2022-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RECQL4 protein in which other variant(s) (p.Ala805_Arg807del) have been determined to be pathogenic (PMID: 29642415, 31604778; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant results in the deletion of exons 12-21 and part of exon 11 of the RECQL4 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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