ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=)

gnomAD frequency: 0.00014  dbSNP: rs150809897
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Total submissions: 9
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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 RCV000037338 SCV000060995 likely benign not specified 2011-10-11 criteria provided, single submitter clinical testing Ala551Ala in exon 14 of LAMA4: This variant has been reported in dbSNP without f requency information (rs150809897). It does not change an amino acid and does n ot affect the splice consensus sequence. This makes a disease causing role very unlikely.
GeneDx RCV000858810 SCV000522278 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460721 SCV000556723 likely benign Dilated cardiomyopathy 1JJ 2024-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399373 SCV002707069 likely benign Cardiovascular phenotype 2022-09-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037338 SCV005726615 benign not specified 2024-11-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000460721 SCV000734447 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037338 SCV001925119 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000858810 SCV001959000 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000858810 SCV001969813 likely benign not provided no assertion criteria provided clinical testing

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