Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002714262 | SCV003726469 | uncertain significance | Inborn genetic diseases | 2022-06-23 | criteria provided, single submitter | clinical testing | The c.668A>G (p.N223S) alteration is located in exon 6 (coding exon 6) of the PAH gene. This alteration results from a A to G substitution at nucleotide position 668, causing the asparagine (N) at amino acid position 223 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |