ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.512G>T (p.Cys171Phe)

gnomAD frequency: 0.10037  dbSNP: rs6010260
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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 RCV000117624 SCV000312415 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020714 SCV000439241 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-01-12 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 RCV001510895 SCV001718046 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020714 SCV001738181 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001510895 SCV001834965 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510895 SCV005275864 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117624 SCV000151856 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. RCV001826487 SCV002076185 benign Megalencephalic leukoencephalopathy with subcortical cysts 2019-11-21 no assertion criteria provided clinical testing

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