ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.329del (p.Arg110fs) (rs794728603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182384 SCV000234721 likely pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing Although the c.329delG variant in the LMNA gene has not been reported to our knowledge, this deletion causes a shift in reading frame starting at codon Arginine 110, changing it to a Leucine, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Arg110LeufsX7. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the LMNA gene have been reported in association with cardiomyopathy and laminopathy. In summary, c.329delG in the LMNA gene is interpreted as a likely pathogenic variant.

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