ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.628G>A (p.Val210Ile)

gnomAD frequency: 0.00110  dbSNP: rs11568178
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665829 SCV000790010 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2017-03-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730237 SCV000857962 likely benign not specified 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000914569 SCV001059750 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000665829 SCV001308100 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000665829 SCV001652733 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272312 SCV001454187 benign Megalencephalic leukoencephalopathy with subcortical cysts 2019-12-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945698 SCV004764617 likely benign MLC1-related disorder 2020-11-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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