ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.229A>G (p.Ile77Val)

gnomAD frequency: 0.00009  dbSNP: rs143258432
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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 RCV004121234 SCV003594869 uncertain significance not specified 2021-11-08 criteria provided, single submitter clinical testing The c.229A>G (p.I77V) 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 229, causing the isoleucine (I) at amino acid position 77 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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