ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)

dbSNP: rs781423785
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219659 SCV001391609 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln408*) 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 (rs781423785, gnomAD 0.0009%). 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: 948407). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497749 SCV002813935 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2022-03-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473772 SCV004194937 likely pathogenic Bardet-Biedl syndrome 13 2024-03-04 criteria provided, single submitter clinical testing

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