ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.311C>G (p.Ser104Trp)

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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 RCV005387703 SCV006036918 uncertain significance not specified 2025-01-08 criteria provided, single submitter clinical testing The c.311C>G (p.S104W) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a C to G substitution at nucleotide position 311, causing the serine (S) at amino acid position 104 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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