ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1190A>G (p.His397Arg)

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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 RCV004838019 SCV005462420 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The c.1190A>G (p.H397R) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 1190, causing the histidine (H) at amino acid position 397 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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