ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.141G>A (p.Pro47=)

gnomAD frequency: 0.00035  dbSNP: rs141926228
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196264 SCV000250502 benign not specified 2015-07-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000196264 SCV000270327 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing p.Pro47Pro in exon 2 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 3/4652 African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g/; dbSNP rs141926228).
Invitae RCV000869333 SCV001010750 likely benign Dilated cardiomyopathy 1JJ 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390516 SCV002696604 likely benign Cardiovascular phenotype 2018-10-28 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.
PreventionGenetics, part of Exact Sciences RCV003947624 SCV004768282 likely benign LAMA4-related condition 2021-05-05 criteria provided, single submitter 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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