ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.124C>T (p.Gln42Ter)

dbSNP: rs1969405671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203927 SCV001375110 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2019-09-12 criteria provided, single submitter clinical testing Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 17397051). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MKS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln42*) in the MKS1 gene. It is expected to result in an absent or disrupted protein product.

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