ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)

gnomAD frequency: 0.00189  dbSNP: rs144662546
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192636 SCV000247829 uncertain significance not specified 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000766665 SCV000617187 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000766665 SCV001068447 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252047 SCV002523558 likely benign See cases 2020-02-22 criteria provided, single submitter clinical testing ACMG classification criteria: BP1, BP4
Ambry Genetics RCV002517945 SCV003733560 likely benign Inborn genetic diseases 2022-05-11 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 RCV003937696 SCV004764286 likely benign LAMC3-related disorder 2019-11-11 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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