Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005387705 | SCV006036926 | uncertain significance | not specified | 2025-01-27 | criteria provided, single submitter | clinical testing | The c.2101G>A (p.V701M) alteration is located in exon 6 (coding exon 6) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 2101, causing the valine (V) at amino acid position 701 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |