ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4626T>C (p.Ile1542=)

gnomAD frequency: 0.00028  dbSNP: rs150791451
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Total submissions: 4
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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 RCV000154737 SCV000204417 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ile1535Ile in Exon 33 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 0.1% (3/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150791451).
Labcorp Genetics (formerly Invitae), Labcorp RCV000651454 SCV000773306 likely benign Dilated cardiomyopathy 1JJ 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001589011 SCV001824374 likely benign not provided 2020-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336319 SCV002636785 likely benign Cardiovascular phenotype 2019-07-08 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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