ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2485C>T (p.Leu829Phe)

gnomAD frequency: 0.00003  dbSNP: rs149085235
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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 RCV004338268 SCV004066921 uncertain significance not specified 2023-06-22 criteria provided, single submitter clinical testing The c.2485C>T (p.L829F) alteration is located in exon 9 (coding exon 9) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 2485, causing the leucine (L) at amino acid position 829 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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