ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.485+1G>A (rs201933838)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000050037 SCV000746374 pathogenic Meckel syndrome type 1 2017-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000671081 SCV000796023 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV001220121 SCV001392095 likely pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-07-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the MKS1 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 (rs201933838, ExAC 0.03%). This variant has been observed in an individual affected with Meckel syndrome (PMID: 17437276). ClinVar contains an entry for this variant (Variation ID: 56624). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MKS1 are known to be pathogenic (PMID: 17397051). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050037 SCV000082446 probable-pathogenic Meckel syndrome type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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