ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2279T>C (p.Leu760Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005379251 SCV006036932 uncertain significance not specified 2025-03-03 criteria provided, single submitter clinical testing The c.2279T>C (p.L760P) alteration is located in exon 7 (coding exon 7) of the NPC1L1 gene. This alteration results from a T to C substitution at nucleotide position 2279, causing the leucine (L) at amino acid position 760 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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