ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.978dup (p.Leu327fs)

dbSNP: rs1553265630
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599487 SCV000710281 pathogenic not provided 2018-01-02 criteria provided, single submitter clinical testing Although the c.978dupA pathogenic variant in the LMNA gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon leucine 327, changing it to a threonine, and creating a premature stop codon at position 4 of the new reading frame, denoted p.Leu327ThrfsX4. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Many other frameshift variants in the LMNA gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), and loss-of-function is a known mechanism of disease for this gene. Furthermore, the c.978dupA variant has not been observed in large population cohorts (Lek et al., 2016).

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