Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004110116 | SCV003583051 | uncertain significance | not specified | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.4014T>G (p.F1338L) alteration is located in exon 20 (coding exon 20) of the NPC1L1 gene. This alteration results from a T to G substitution at nucleotide position 4014, causing the phenylalanine (F) at amino acid position 1338 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |