ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)

dbSNP: rs1057517228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410294 SCV000486946 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2016-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410294 SCV004195005 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2023-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669145 SCV004391350 pathogenic not provided 2023-05-19 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: 371381). This variant has not been reported in the literature in individuals affected with MLC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln23*) 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).

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