Conclusion and results
The variant in PDLIM7 was a missense variant (NM_005451.5(PDLIM7)c.716C>T p.(Thr239Met)) (AMCG classification: variant of unknown significance - PM2 and PP3). Literature search on PDLIM7 revealed that the gene was involved in cardiac valve formation. The frequency of the variant was very rare in the population database GnomAD v2.1.1 (0.0012%) and the variant was absent in our in-house database. The variant involved a moderately conserved nucleotide (PhyloP 3.68) and amino acid (considering 12 species) and the functional annotation algorithms Polyphen2 and SIFT predicted a probably damaging or deleterious effect of the variant. By testing other family members, co-segregation was shown, even though one carrier (III.3) showed no phenotype at age of 29. However, incomplete penetrance and variable age of onset is common in genetic cardiac disorders.