Submissions for variant NM_015166.4(MLC1):c.627C>T (p.Ala209=)

gnomAD frequency: 0.00071  dbSNP: rs138153307

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000329979	SCV000439237	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000914796	SCV001059981	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000914796	SCV001500757	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MLC1: BP4, BP7
Genome-Nilou Lab	RCV000329979	SCV001653348	likely benign	Megalencephalic leukoencephalopathy with subcortical cysts 1	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272313	SCV001454188	benign	Megalencephalic leukoencephalopathy with subcortical cysts	2019-11-11	no assertion criteria provided	clinical testing