ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) (rs137853229)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464774 SCV000545927 pathogenic Baller-Gerold syndrome 2018-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln757*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs137853229, ExAC 0.03%). This particular variant has been reported in the literature in the homozygous or compound heterozygous state in multiple individuals affected with Rothmund-Thomson syndrome (PMID: 10319867, 25120469, 18716613, 12734318, 24635570, 21418107, 27247962) and in an individual affected with RAPADILINO syndrome (PMID: 18716613). ClinVar contains an entry for this variant (Variation ID: 6063). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000624444 SCV000742050 pathogenic Inborn genetic diseases 2016-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000006435 SCV000803871 pathogenic Rothmund-Thomson syndrome 2014-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763179 SCV000893778 pathogenic Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000984855 SCV000026618 pathogenic Rothmund-Thomson syndrome type 2 2009-02-01 no assertion criteria provided literature only

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