ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.153G>T (p.Ser51=)

gnomAD frequency: 0.00001  dbSNP: rs751886390
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616855 SCV000725385 likely benign not specified 2017-12-08 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.
Invitae RCV000654002 SCV000775892 likely benign Charcot-Marie-Tooth disease type 2 2023-06-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176365 SCV001340329 likely benign Cardiomyopathy 2019-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404668 SCV002705881 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: 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 RCV002476361 SCV002802639 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 2021-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411457 SCV004124984 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing LMNA: BP4, BP7

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