ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.1630+1G>A

gnomAD frequency: 0.00001  dbSNP: rs369016031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001861673 SCV002239103 pathogenic not provided 2023-06-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs369016031, gnomAD 0.01%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 545021). Disruption of this splice site has been observed in individual(s) with clinical features of AEBP1-related conditions (PMID: 27023906). It has also been observed to segregate with disease in related individuals. This sequence change affects a donor splice site in intron 13 of the AEBP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AEBP1 are known to be pathogenic (PMID: 29606302).
OMIM RCV000656230 SCV000778182 pathogenic Ehlers-Danlos syndrome, classic-like, 2 2018-05-30 no assertion criteria provided literature only

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