ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.423+1G>T

dbSNP: rs752428321
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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 RCV001379411 SCV001577207 pathogenic not provided 2022-11-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1067995). Disruption of this splice site has been observed in individuals with clinical features of megalencephalic leukoencephalopathy with subcortical cysts (PMID: 11935341, 32056211, 33084218; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the MLC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MLC1 are known to be pathogenic (PMID: 11254442, 16470554, 24824219). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473919 SCV004194995 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2023-04-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831368 SCV002076187 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2020-01-03 no assertion criteria provided clinical testing

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