Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004490929 | SCV004990683 | uncertain significance | not specified | 2024-03-07 | criteria provided, single submitter | clinical testing | The c.2021C>T (p.A674V) alteration is located in exon 6 (coding exon 6) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 2021, causing the alanine (A) at amino acid position 674 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |