ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu)

gnomAD frequency: 0.00018  dbSNP: rs147377945
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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 RCV004203947 SCV003702573 uncertain significance not specified 2022-03-29 criteria provided, single submitter clinical testing The c.3893C>T (p.P1298L) alteration is located in exon 20 (coding exon 20) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 3893, causing the proline (P) at amino acid position 1298 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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