ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.338G>A (p.Cys113Tyr)

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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 RCV005379246 SCV006036921 uncertain significance not specified 2025-01-11 criteria provided, single submitter clinical testing The c.338G>A (p.C113Y) 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 338, causing the cysteine (C) at amino acid position 113 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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