ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser)

gnomAD frequency: 0.00003  dbSNP: rs746212879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932726 SCV001078413 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029595 SCV004984909 likely benign Inborn genetic diseases 2023-10-13 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.
Natera, Inc. RCV001274271 SCV001458242 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-09-16 no assertion criteria provided clinical testing

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