ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.811del (p.His271fs)

dbSNP: rs1968969593
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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 RCV001387502 SCV001588155 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His271Thrfs*29) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Meckel-Gruber syndrome (PMID: 23351400). ClinVar contains an entry for this variant (Variation ID: 1074274). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001831396 SCV002087646 pathogenic Meckel syndrome, type 1 2020-07-02 no assertion criteria provided clinical testing

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