ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1391-1G>A (rs117642173)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814733 SCV000955155 pathogenic Baller-Gerold syndrome 2018-10-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the RECQL4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs117642173, ExAC 0.02%). This variant has been observed in individuals affected with Rothmund–Thomson syndrome who also had a second pathogenic RECQL4 variant (PMID: 10678659, 28039508, 27247962, 28486640, 21143835), and it has been reported to segregate with the disease in more than one family (PMID: 10678659, 28039508). This variant is also known as a 3' splice site G→A change in the literature. ClinVar contains an entry for this variant (Variation ID: 407029). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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 RCV000006439 SCV000026622 pathogenic Rothmund-Thomson syndrome 2000-01-31 no assertion criteria provided literature only

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