Question on L183i also known as the c.547C>A - Cystic Fibrosis mutation


New member
Hello All

Very recently my daughter who will be 8 years of age in June was diagnosed with Cystic Fibrosis at Boston Children Hospital based on the following

1. Sweat test result 62 mmol/L
2. Mild respiratory symptoms

Subsequent to this the doctor ordered a Genetic testing and the result came back as her having a Variant of unknown significance on one of the genes – The other gene had no mutation. the variant identified was p.L183I also known as the c.547C>A. This was very interesting because the mutation was only on one gene and nothing on the other

Apart from the mild respiratory problems my daughter seems to be very healthy – she has a very good height to weight ratio 4 feet 2 inches and a weight of 27.6 kg – also her stool Elastase test came out to be a bit low but not low to require enzymes

As we continue to investigate this further, is any one on this forum aware of this mutation?

The doctor has called for a repeat sweat test on 04/05 for my daughter – it would be nice to hear your thoughts on my questions

Thanks in advance