ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1879C>T (p.Arg627Cys)

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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 RCV005387708 SCV006036929 uncertain significance not specified 2025-02-09 criteria provided, single submitter clinical testing The c.1879C>T (p.R627C) alteration is located in exon 5 (coding exon 5) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 1879, causing the arginine (R) at amino acid position 627 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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