Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005379252 | SCV006036933 | uncertain significance | not specified | 2025-03-07 | criteria provided, single submitter | clinical testing | The c.850A>T (p.S284C) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a A to T substitution at nucleotide position 850, causing the serine (S) at amino acid position 284 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |