ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)

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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 RCV003805955 SCV004593581 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr221*) in the MKS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MKS1 are known to be pathogenic (PMID: 19466712, 24886560, 26490104). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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