ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1619del (p.Gln540fs)

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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 RCV002601744 SCV002954044 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln540Argfs*11) in the MKS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the MKS1 protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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