ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.95C>T (p.Ala32Val)

gnomAD frequency: 0.00010  dbSNP: rs200382943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671823 SCV000796846 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000938884 SCV001084712 likely benign not provided 2024-05-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000671823 SCV001309083 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001830452 SCV002081611 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-02-14 no assertion criteria provided clinical testing

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