ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.1378-1dup (rs762668200)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501226 SCV000595797 pathogenic Meckel syndrome type 1 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV000823733 SCV000964603 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-01-06 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MKS1 gene (p.Glu471Glyfs*120). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acids of the MKS1 protein and extend the protein by an additional 31 amino acids. This variant is present in population databases (rs762668200, ExAC 0.1%). This variant has not been reported in the literature in individuals with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 435876). This variant results in an extension of the MKS1 protein. Other variant(s) that result in a similarly extended protein product (p.Thr485Argfs*107) have been determined to be pathogenic (PMID: 17185389, 17397051). This suggests that these extensions are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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