Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176130 | SCV001339997 | uncertain significance | Cardiomyopathy | 2023-04-28 | criteria provided, single submitter | clinical testing | This variant causes a C to T nucleotide substitution at the +13 position of intron 10 of the lamin A transcript (NM_170707.3). In the lamin C transcript (NM_005572.3), this variant corresponds to c.1711C>T, resulting in the missense variant (p.Arg571Cys) at the C-terminal end of the lamin C protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two related individuals affected with dilated cardiomyopathy (PMID: 31521807). This variant has also been reported in an individual affected with Emery-Dreifuss muscular dystrophy and peripheral neuropathy with no cardiac involvement, as well as in an unaffected parent (PMID: 15965218, 22326558). This variant has been identified in 7/150320 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Athena Diagnostics | RCV000057045 | SCV001476536 | uncertain significance | not provided | 2020-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854169 | SCV002282068 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-08-30 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 10 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. This variant is present in population databases (rs80338938, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 15965218, 17377071, 22326558). This variant is also known as c.1711C>T (p.Arg571Cys). ClinVar contains an entry for this variant (Variation ID: 66611). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002504958 | SCV002814491 | 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; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000057045 | SCV003814678 | uncertain significance | not provided | 2019-06-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996491 | SCV004826040 | uncertain significance | Primary dilated cardiomyopathy | 2023-11-30 | criteria provided, single submitter | clinical testing | This variant causes a C to T nucleotide substitution at the +13 position of intron 10 of the lamin A transcript (NM_170707.3). In the lamin C transcript (NM_005572.3), this variant corresponds to c.1711C>T, resulting in the missense variant (p.Arg571Cys) at the C-terminal end of the lamin C protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two related individuals affected with dilated cardiomyopathy (PMID: 31521807). This variant has also been reported in an individual affected with Emery-Dreifuss muscular dystrophy and peripheral neuropathy with no cardiac involvement, as well as in an unaffected parent (PMID: 15965218, 22326558). This variant has been identified in 7/150320 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057045 | SCV000088158 | not provided | not provided | no assertion provided | not provided | ||
Inherited Neuropathy Consortium | RCV000790249 | SCV000929647 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |