ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.12G>A (p.Pro4=)

gnomAD frequency: 0.00001  dbSNP: rs369823958
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422715 SCV000513492 benign not specified 2015-11-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000527270 SCV000657798 likely benign Charcot-Marie-Tooth disease type 2 2024-10-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768707 SCV000900077 likely benign Cardiomyopathy 2015-12-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173407 SCV001336495 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000768707 SCV001359859 likely benign Cardiomyopathy 2020-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379298 SCV002692473 likely benign Cardiovascular phenotype 2019-07-11 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.
Fulgent Genetics, Fulgent Genetics RCV002488882 SCV002795910 likely benign Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 2021-11-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995962 SCV004843283 likely benign Primary dilated cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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