ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=)

dbSNP: rs369799390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216999 SCV000270335 likely benign not specified 2015-02-12 criteria provided, single submitter clinical testing p.Leu1661Leu in exon 36 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV000868651 SCV001010009 likely benign Dilated cardiomyopathy 1JJ 2023-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165527 SCV003910275 likely benign Cardiovascular phenotype 2022-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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