ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1731T>C (p.Ala577=)

gnomAD frequency: 0.00001  dbSNP: rs776066211
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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 RCV000216884 SCV000270361 likely benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Ala577Ala in exon 11 of LMNA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/58572 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
Invitae RCV000653966 SCV000775856 likely benign Charcot-Marie-Tooth disease type 2 2023-09-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187398 SCV001354200 likely benign Cardiomyopathy 2019-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408924 SCV002715690 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 RCV002500695 SCV002813794 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 2022-04-14 criteria provided, single submitter clinical testing

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