ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1489-2A>G (rs879254081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236890 SCV000293398 likely pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing The c.1489-2 A>G likely athogenic variant in the LMNA gene has previously been reported in two individuals with a LMNA-related phenotype, who have either clinical cardiac involvement or possible cardiac involvement with familial evidence of a laminopathy (van Rijsingen et al., 2013). This variant was also identified in two additional family members, however, specific clinical and family history information was not provided (van Rijsingen et al., 2013). This variant destroys the canonical splice acceptor site in intron 8 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the LMNA gene have been reported in HGMD in association with LMNA-related disorders (Stenson et al., 2014). Furthermore, the c.1489-2 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available evidence, c.1489-2 A>G is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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