Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004152506 | SCV003632757 | uncertain significance | not specified | 2022-07-20 | criteria provided, single submitter | clinical testing | The c.4742T>G (p.F1581C) alteration is located in exon 25 (coding exon 24) of the ZAN gene. This alteration results from a T to G substitution at nucleotide position 4742, causing the phenylalanine (F) at amino acid position 1581 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |