ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs) (rs1064793882)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486297 SCV000567267 likely pathogenic not provided 2017-11-27 criteria provided, single submitter clinical testing Although the c.164_168delAGAACinsTCT variant in the LMNA gene has not been reported to ourknowledge, this variant causes a shift in reading frame starting at codon Glutamic acid 55, changing it to aValine, and creating a premature stop codon at position 12 of the new reading frame, denotedp.Glu55ValfsX12. This variant is expected to result in either an abnormal, truncated protein product or lossof protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the LMNAgene have been reported in HGMD in association with LMNA-related disorders (Stenson P et al., 2014).Furthermore, the c.164_168delAGAACinsTCT variant was not observed in approximately 6500 individualsof European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. Based on currently available evidence, c.164_168delAGAACinsTCT is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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