ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)

gnomAD frequency: 0.00012  dbSNP: rs200177134
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Total submissions: 7
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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 RCV000037392 SCV000061049 uncertain significance not specified 2012-11-14 criteria provided, single submitter clinical testing The Pro1750Leu variant in LAMA4 has not been reported in the literature nor prev iously identified by our laboratory or in large and broad European American and African American populations screened by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/). It was detected in 1/196 Tuscan chromosomes fro m a broad population by the 1000 Genomes Sequencing Project (dbSNP rs200177134). The low frequency of this variant is insufficient to assess its clinical signif icance. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully as sess the clinical significance of the Pro1750Leu variant.
Fulgent Genetics, Fulgent Genetics RCV000765865 SCV000897261 uncertain significance Dilated cardiomyopathy 1JJ 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765865 SCV001001568 likely benign Dilated cardiomyopathy 1JJ 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001563383 SCV001786314 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28798025, 25979592)
Ambry Genetics RCV002345293 SCV002646122 likely benign Cardiovascular phenotype 2019-09-18 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.
PreventionGenetics, part of Exact Sciences RCV003944911 SCV004765962 likely benign LAMA4-related condition 2019-11-16 criteria provided, single submitter 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).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000037392 SCV000804879 uncertain significance not specified 2016-09-23 no assertion criteria provided clinical testing

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