ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)

dbSNP: rs903778224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040339 SCV001203904 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2019-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 17397051). 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.Ser153*) in the MKS1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003473621 SCV004194956 likely pathogenic Bardet-Biedl syndrome 13 2022-12-01 criteria provided, single submitter clinical testing

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