ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) (rs794728601)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182381 SCV000234718 likely pathogenic not provided 2018-12-10 criteria provided, single submitter clinical testing The R60P variant that is likely pathogenic in the LMNA gene has been reported in at least one family with partial lipodystrophy and comorbidities including DCM with rhythm and/or conduction disturbances (Jeru et al., 2017), specific segregation data were not provided. This variant has been identified at GeneDx in at least two unrelated individuals referred for cardiomyopathy genetic testing. This variant is not observed in large population cohorts (Lek et al., 2016). R60P is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Although in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function, the R60P variant occurs in the alpha-helical rod domain of the LMNA gene, a region considered to be a critical functional domain. Furthermore, different likely pathogenic missense variants affecting the same residue (R60G, R60C) have been reported at GeneDx or in the literature in association with LMNA-related disorders (Fatkin et al., 1999; Carboni et al., 2010; Subramanyam et al., 2010).In summary, R60P in the LMNA gene is interpreted as a likely pathogenic variant.

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