rs782643025

Description

The p.P348A variant (also known as c.1042C>G), located in coding exon 6 of the FLNA gene, results from a C to G substitution at nucleotide position 1042. The proline at codon 348 is replaced by alanine, an amino acid with some highly similar properties. Based on data from ExAC, the Gallele has an overall frequency of approximately0.01% (5/86552). The highest observed frequency was 0.08% (5/6607) of East Asian alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed September 14, 2015]).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 6193 samples (12386 alleles)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.Since supporting evidence is limited at this time, the clinical significance of this variantremains unclear.