ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) (rs752729755)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527990 SCV000631094 pathogenic Baller-Gerold syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His831Argfs*52) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752729755, ExAC 0.04%). This variant has been reported in the compound heterozygous state with other loss-of-function variants in individuals affected with Rothmund-Thomson syndrome (PMID: 10319867, 24518840), and in one individual affected with Baller-Gerold syndrome (PMID: 19291770). ClinVar contains an entry for this variant (Variation ID: 6064). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006436 SCV000026619 pathogenic Rothmund-Thomson syndrome type 2 1998-12-15 no assertion criteria provided literature only

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