ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1613T>C (p.Leu538Pro)

dbSNP: rs2484348133
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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 RCV004167430 SCV003657053 uncertain significance not specified 2022-11-10 criteria provided, single submitter clinical testing The c.1613T>C (p.L538P) alteration is located in exon 3 (coding exon 3) of the NPC1L1 gene. This alteration results from a T to C substitution at nucleotide position 1613, causing the leucine (L) at amino acid position 538 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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