ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.324del (p.Asn110fs)

dbSNP: rs786204747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169597 SCV000221109 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2015-02-02 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001390442 SCV001592180 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 189169). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with megalencephalic leukoencephalopathy with subcortical cysts (PMID: 16470554). This variant is present in population databases (rs786204747, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn110Thrfs*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).
Baylor Genetics RCV000169597 SCV004195007 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2022-12-26 criteria provided, single submitter clinical testing

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