ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1488+6T>G

gnomAD frequency: 0.00008  dbSNP: rs369642101
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599507 SCV000710642 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV001178645 SCV001343148 uncertain significance Cardiomyopathy 2023-03-29 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the +6 position of intron 8 of the LMNA gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LMNA-related disorders in the literature. This variant has been identified in 6/251294 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001236548 SCV001409276 uncertain significance Charcot-Marie-Tooth disease type 2 2024-12-10 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs369642101, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 504326). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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, Fulgent Genetics RCV002476345 SCV002776744 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 2024-05-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155244 SCV003844516 uncertain significance not specified 2023-02-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002472 SCV004831146 uncertain significance Primary dilated cardiomyopathy 2023-11-02 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the +6 position of intron 8 of the LMNA gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LMNA-related disorders in the literature. This variant has been identified in 6/251294 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.

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