ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.135del (p.Cys46fs)

dbSNP: rs80358241
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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 RCV003050584 SCV003444457 pathogenic not provided 2022-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys46Alafs*12) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with megalencephalic leukoencephalopathy with subcortical cysts (PMID: 25497041, 28588848, 28840990). For these reasons, this variant has been classified as Pathogenic.

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