ClinVar Miner

Submissions for variant NM_015681.5(B9D1):c.341+2T>C (rs143149764)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000024098 SCV000593572 likely pathogenic Meckel syndrome, type 9 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV000818541 SCV000959160 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the B9D1 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 (rs143149764, ExAC 0.006%). This variant has been observed in individual(s) with Meckel Gruber syndrome (PMID: 21493627). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.505+2T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 31102). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 21493627). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in B9D1 are known to be pathogenic (PMID: 21493627). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049798 SCV000082207 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000024098 SCV000045389 pathogenic Meckel syndrome, type 9 2011-07-01 no assertion criteria provided literature only

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