ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) (rs144123257)

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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, Partners HealthCare Personalized Medicine RCV000154738 SCV000204418 likely benign not specified 2014-02-07 criteria provided, single submitter clinical testing Ala850Thr in exon 20 of LAMA4: This variant has been identified in 2/8600 Europe an American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs144123257). This variant is not expected to have cli nical significance due to a lack of conservation across species, including mamma ls. Of note, 27 species have a threonine (Thr) at this position despite high nea rby amino acid conservation. Ala850Thr in exon 20 of LAMA4 (rs144123257; allel e frequency = 2/8600) **
Ambry Genetics RCV000617876 SCV000736734 likely benign Cardiovascular phenotype 2019-08-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605608 SCV000744217 likely benign Dilated cardiomyopathy 1JJ 2017-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605608 SCV000734440 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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