ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) (rs386834046)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674337 SCV000799659 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV001384725 SCV001584354 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2020-05-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr62Valfs*14) in the MKS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Meckel syndrome (PMID: 17397051). ClinVar contains an entry for this variant (Variation ID: 56619). 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. Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 19466712, 24886560, 26490104). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050032 SCV000082441 probable-pathogenic Meckel syndrome type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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