ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)

gnomAD frequency: 0.00001  dbSNP: rs760971749
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387056 SCV001587550 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073914). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. This variant is present in population databases (rs760971749, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser344*) 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).
Revvity Omics, Revvity RCV003145652 SCV003830972 likely pathogenic not provided 2022-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473975 SCV004194933 likely pathogenic Bardet-Biedl syndrome 13 2023-08-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014537 SCV005647339 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-06-06 criteria provided, single submitter clinical testing

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