ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1802G>T (p.Arg601Leu)

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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 RCV004650269 SCV005145878 uncertain significance not specified 2024-04-20 criteria provided, single submitter clinical testing The c.1802G>T (p.R601L) alteration is located in exon 4 (coding exon 4) of the NPC1L1 gene. This alteration results from a G to T substitution at nucleotide position 1802, causing the arginine (R) at amino acid position 601 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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