ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1408A>G (p.Ile470Val)

gnomAD frequency: 0.00001  dbSNP: rs377561588
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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 RCV004490922 SCV004990676 uncertain significance not specified 2023-12-21 criteria provided, single submitter clinical testing The c.1408A>G (p.I470V) 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 1408, causing the isoleucine (I) at amino acid position 470 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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