ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2577G>A (p.Thr859=)

gnomAD frequency: 0.00001  dbSNP: rs397516724
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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, Mass General Brigham Personalized Medicine RCV000037351 SCV000061008 likely benign not specified 2012-01-05 criteria provided, single submitter clinical testing Thr852Thr in exon 20 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. Thr852Thr in exon 20 of LAMA4 (allele freque ncy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054657 SCV002328660 likely benign Dilated cardiomyopathy 1JJ 2024-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453312 SCV002740172 likely benign Cardiovascular phenotype 2020-03-11 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.
PreventionGenetics, part of Exact Sciences RCV003904916 SCV004727449 likely benign LAMA4-related disorder 2019-08-06 no assertion criteria provided 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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