Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004338268 | SCV004066921 | uncertain significance | not specified | 2023-06-22 | criteria provided, single submitter | clinical testing | The c.2485C>T (p.L829F) alteration is located in exon 9 (coding exon 9) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 2485, causing the leucine (L) at amino acid position 829 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |