ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.2T>A (p.Met1Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003808425 SCV004592479 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MKS1 protein in which other variant(s) (p.Asp19Tyr) have been determined to be pathogenic (PMID: 26092869, 26490104; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MKS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the MKS1 mRNA. The next in-frame methionine is located at codon 144.

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