ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.49C>T (p.Arg17Cys)

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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 RCV004650263 SCV005145870 uncertain significance not specified 2024-03-20 criteria provided, single submitter clinical testing The c.49C>T (p.R17C) alteration is located in exon 1 (coding exon 1) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 49, causing the arginine (R) at amino acid position 17 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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