ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1770_1807del (p.Pro591fs) (rs780542343)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697637 SCV000826260 pathogenic Baller-Gerold syndrome 2018-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro591Hisfs*2) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with Rothmund-Thomson syndrome (PMID: 29462647). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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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