ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3819C>T (p.Phe1273=)

gnomAD frequency: 0.00010  dbSNP: rs138232283
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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 RCV000222050 SCV000270331 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing p.Phe1266Phe in exon 28 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 12/66166 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs138232283).
GeneDx RCV000866546 SCV000715652 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619287 SCV000736623 likely benign Cardiovascular phenotype 2016-06-10 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.
Invitae RCV001429524 SCV001632239 likely benign Dilated cardiomyopathy 1JJ 2023-10-13 criteria provided, single submitter clinical testing

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