ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1698+16C>T (rs773169005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726056 SCV000234741 uncertain significance not provided 2014-09-09 criteria provided, single submitter clinical testing c.1698+16 C>T: IVS10+16 C>T in intron 10 of the main LMNA transcript NM_170707.2. The c.1698+16 C>T variant is also known as R572C in isoform C of the alternate LMNA transcript NM_005572.3. The R572C variant in the LMNA gene has been reported in one Han Chinese individual with idiopathic DCM (Sun et al., 2014). This variant (c.1698+16 C>T in the main LMNA transcript) results in a non-conservative amino acid substitution (R572C) in an alternate LMNA transcript, isoform C. This substitution occurs at a position that is conserved among mammals. Furthermore, the c.1698+16 C>T variant was not observed in approximately 5,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Only two mutations in isoform C (R571C and R571S) have been reported in association with muscular dystrophy/peripheral neuropathy and DCM, respectively. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726056 SCV000341582 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing
Color RCV001182259 SCV001347649 likely benign Cardiomyopathy 2019-04-15 criteria provided, single submitter clinical testing

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