ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)

gnomAD frequency: 0.00007  dbSNP: rs267607606
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000057260 SCV000232224 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000057260 SCV000565112 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing Reported in an Asian individual with atrial fibrillation who harbored a second variant in the LMNA gene (Brauch et al., 2009); however, both variants were also found in an ethnically-matched control individual; Identified in an apparently homozygous Chinese male proband with autosomal recessive Charcot-Marie-Tooth disease (Zhang et al., 2010); however, the variant did not segregate in the homozygous state in two affected siblings; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 66797; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Functional studies demonstrate that V415I is located in the Nesprin-2 binding site and may affect Nesprin-2 binding (Yang et al., 2013); however, the clinical validity of these studies remains to be established; This variant is associated with the following publications: (PMID: 19427440, 23977161, 28679633, 20709679)
Invitae RCV000534245 SCV000657796 likely benign Charcot-Marie-Tooth disease type 2 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764982 SCV000896161 uncertain significance Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191555 SCV001359417 likely benign Cardiomyopathy 2018-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000057260 SCV001476534 uncertain significance not provided 2020-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381362 SCV002670311 likely benign Cardiovascular phenotype 2019-04-05 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000057260 SCV004224658 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057260 SCV000088373 not provided not provided no assertion provided not provided

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