ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) (rs1555599412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670245 SCV000795076 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-10-26 criteria provided, single submitter clinical testing
Invitae RCV000701980 SCV000830807 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu277*) 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 not been reported in the literature in individuals with MKS1-related disease. Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 17397051). For these reasons, this variant has been classified as Pathogenic.

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