ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1250G>A (p.Arg417Gln)

dbSNP: rs536660131
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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 RCV004490921 SCV004990674 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The c.1250G>A (p.R417Q) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 1250, causing the arginine (R) at amino acid position 417 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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