Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004155471 | SCV003635793 | uncertain significance | not specified | 2022-08-16 | criteria provided, single submitter | clinical testing | The c.3185C>T (p.S1062L) alteration is located in exon 15 (coding exon 15) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 3185, causing the serine (S) at amino acid position 1062 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |