ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.796A>G (p.Ile266Val)

gnomAD frequency: 0.00001  dbSNP: rs147224015
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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 RCV004119777 SCV003587830 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing The c.796A>G (p.I266V) 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 796, causing the isoleucine (I) at amino acid position 266 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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