ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3988C>T (p.Arg1330Trp)

gnomAD frequency: 0.00003  dbSNP: rs755084966
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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 RCV004082519 SCV003537371 uncertain significance not specified 2021-10-20 criteria provided, single submitter clinical testing The c.4069C>T (p.R1357W) 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 4069, causing the arginine (R) at amino acid position 1357 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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