ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1645C>A (p.Pro549Thr)

dbSNP: rs1305808444
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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 RCV004317817 SCV003982861 uncertain significance not specified 2023-05-18 criteria provided, single submitter clinical testing The c.1645C>A (p.P549T) alteration is located in exon 3 (coding exon 3) of the NPC1L1 gene. This alteration results from a C to A substitution at nucleotide position 1645, causing the proline (P) at amino acid position 549 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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