Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000057260 | SCV000232224 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
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) |
Labcorp Genetics |
RCV000534245 | SCV000657796 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764982 | SCV000896161 | uncertain significance | 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; 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, |
RCV001191555 | SCV001359417 | likely benign | Cardiomyopathy | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | 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: 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. |
Mayo Clinic Laboratories, |
RCV000057260 | SCV004224658 | uncertain significance | not provided | 2022-04-18 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057260 | SCV000088373 | not provided | not provided | no assertion provided | not provided |