rs782168634

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

The p.P480L variant (also known as c.1439C>T), located in coding exon 9 of the FLNA gene, results from a C to T substitution at nucleotide position 1439. The proline at codon 480 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6056 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.<span style="color:black; font-family:arial,sans-serif; font-size:10pt">Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.