ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3346C>A (p.Leu1116Ile)

dbSNP: rs552498840
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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 RCV004352348 SCV004084790 uncertain significance not specified 2023-07-25 criteria provided, single submitter clinical testing The c.3427C>A (p.L1143I) alteration is located in exon 17 (coding exon 17) of the NPC1L1 gene. This alteration results from a C to A substitution at nucleotide position 3427, causing the leucine (L) at amino acid position 1143 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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