Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004140329 | SCV003618264 | uncertain significance | not specified | 2022-05-31 | criteria provided, single submitter | clinical testing | The c.1922T>C (p.I641T) alteration is located in exon 5 (coding exon 5) of the NPC1L1 gene. This alteration results from a T to C substitution at nucleotide position 1922, causing the isoleucine (I) at amino acid position 641 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |