Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004214459 | SCV003709486 | uncertain significance | not specified | 2022-09-14 | criteria provided, single submitter | clinical testing | The c.3101C>T (p.T1034I) alteration is located in exon 14 (coding exon 14) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 3101, causing the threonine (T) at amino acid position 1034 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |