Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004650268 | SCV005145877 | uncertain significance | not specified | 2024-05-21 | criteria provided, single submitter | clinical testing | The c.3874G>A (p.V1292M) alteration is located in exon 19 (coding exon 19) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 3874, causing the valine (V) at amino acid position 1292 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |