Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004490921 | SCV004990674 | uncertain significance | not specified | 2023-11-22 | criteria provided, single submitter | clinical testing | The c.1250G>A (p.R417Q) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 1250, causing the arginine (R) at amino acid position 417 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |