ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=)

gnomAD frequency: 0.00009  dbSNP: rs200300118
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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 RCV000154732 SCV000204412 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala1807Ala in exon 39 of LAMA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/7020 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Ala1807Ala in exon 39 of LAMA4 (allele fre quency = 2/7020) **
Labcorp Genetics (formerly Invitae), Labcorp RCV000651458 SCV000773310 likely benign Dilated cardiomyopathy 1JJ 2024-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345500 SCV002649358 likely benign Cardiovascular phenotype 2019-06-06 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.
PreventionGenetics, part of Exact Sciences RCV003907461 SCV004719041 likely benign LAMA4-related disorder 2024-01-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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