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
Ambry Genetics RCV000617876 SCV000736734 uncertain significance Cardiovascular phenotype 2017-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
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
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 (http://evs.gs.was hington.edu/EVS/; 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) **

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