ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.754dup (p.Cys252fs)

gnomAD frequency: 0.00001  dbSNP: rs757250956
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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 RCV001219156 SCV001391077 pathogenic not provided 2024-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys252Leufs*40) in the MLC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLC1 are known to be pathogenic (PMID: 11254442, 16470554, 24824219). This variant is present in population databases (rs757250956, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with MLC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 947987). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001780141 SCV002024359 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2023-07-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001780141 SCV005057938 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2024-02-05 criteria provided, single submitter clinical testing

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