ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3003C>T (p.Gly1001=)

gnomAD frequency: 0.00001  dbSNP: rs397516728
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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 RCV000037360 SCV000061017 likely benign not specified 2012-04-03 criteria provided, single submitter clinical testing p.Gly994Gly in exon 23 of LAMA4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001504171 SCV001709042 likely benign Dilated cardiomyopathy 1JJ 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004991986 SCV005607197 likely benign Cardiovascular phenotype 2024-08-11 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.

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