ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) (rs772719574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669895 SCV000794692 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV001201422 SCV001372489 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2019-08-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MKS1 gene (p.Arg534*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acids of the MKS1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 554287). 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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