ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs)

dbSNP: rs780542343
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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 RCV000697637 SCV000826260 pathogenic Baller-Gerold syndrome 2023-03-17 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Rothmund-Thomson syndrome (PMID: 29462647). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 575425). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs780542343, gnomAD 0.02%). 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. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869).

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