ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)

gnomAD frequency: 0.00091  dbSNP: rs147695488
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Total submissions: 11
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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 RCV000037390 SCV000061047 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Gly172Ser in exon 6 of LAMA4: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (25/9762) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs147695488).
Ambry Genetics RCV000249046 SCV000319892 likely benign Cardiovascular phenotype 2018-07-10 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.
GeneDx RCV001699186 SCV000518344 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Invitae RCV000475120 SCV000556722 likely benign Dilated cardiomyopathy 1JJ 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000475120 SCV002047852 likely benign Dilated cardiomyopathy 1JJ 2020-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000475120 SCV002806546 likely benign Dilated cardiomyopathy 1JJ 2021-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952430 SCV004769086 likely benign LAMA4-related condition 2024-01-01 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).
Clinical Genetics, Academic Medical Center RCV001699186 SCV001924278 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699186 SCV001930858 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699186 SCV001958837 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699186 SCV001967957 likely benign not provided no assertion criteria provided clinical testing

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