ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4691G>T (p.Ser1564Ile)

gnomAD frequency: 0.00018  dbSNP: rs369887291
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Total submissions: 5
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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 RCV000037383 SCV000061040 likely benign not specified 2014-12-04 criteria provided, single submitter clinical testing p.Ser1557Ile in exon 34 of LAMA4: This variant is not expected to have clinical significance because it has been identified in 0.3% (25/8748) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs369887291). Moreover, serine (Ser) at position 1557 is not conserved in mammals or evolutionarily distant species and at least 16 species (14 species of bird, American alligator, stickelback) carry an isolecuine (Ile) at this pos ition, supporting that this change may be tolerated.
GeneDx RCV001703880 SCV000250543 likely benign not provided 2021-06-26 criteria provided, single submitter clinical testing
Invitae RCV000206410 SCV000262001 likely benign Dilated cardiomyopathy 1JJ 2024-01-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170142 SCV001332683 benign Cardiomyopathy 2018-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336127 SCV002636200 likely benign Cardiovascular phenotype 2019-08-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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