ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.1053T>C (p.Ala351=)

gnomAD frequency: 0.00056  dbSNP: rs11568190
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000117623 SCV000312413 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361513 SCV000439229 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000929782 SCV001075418 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361513 SCV002014216 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000929782 SCV005206628 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004955279 SCV005445241 likely benign Inborn genetic diseases 2024-10-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV000117623 SCV000151855 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001274270 SCV001458241 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-09-16 no assertion criteria provided clinical testing

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