ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.805dup (p.Ser269fs)

dbSNP: rs1320893771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937270 SCV002131497 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser269Phefs*36) 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 present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1363964). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475129 SCV004194938 likely pathogenic Bardet-Biedl syndrome 13 2023-07-13 criteria provided, single submitter clinical testing

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