ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3573C>G (p.Ile1191Met)

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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 RCV004838016 SCV005462417 uncertain significance not specified 2024-09-25 criteria provided, single submitter clinical testing The c.3654C>G (p.I1218M) alteration is located in exon 18 (coding exon 18) of the NPC1L1 gene. This alteration results from a C to G substitution at nucleotide position 3654, causing the isoleucine (I) at amino acid position 1218 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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