ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.859del (p.Ala287fs)

dbSNP: rs59564495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182389 SCV000234726 pathogenic not provided 2013-10-03 criteria provided, single submitter clinical testing The c.859delG mutation has been reported previously in a female patient diagnosed with cardiomyopathy at age 36 and limb-girdle muscular dystrophy at age 37 (Benedetti S et al., 2007; referred to as c.855delG). This mutation causes a shift in reading frame starting at codon Alanine 287, changing it to a Leucine, and creating a premature stop codon at position 193 of the new reading frame, denoted p.Ala287LeufsX193. This mutation 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 mutations in the LMNA gene have been reported in association with DCM. In summary, c.859delG in the LMNA gene is interpreted as a disease-causing mutation.
Blueprint Genetics RCV000208368 SCV000264010 likely pathogenic Primary dilated cardiomyopathy 2015-01-08 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000182389 SCV000088588 not provided not provided no assertion provided not provided

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