ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2873T>C (p.Ile958Thr)

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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 RCV004832452 SCV005462434 uncertain significance not specified 2024-12-06 criteria provided, single submitter clinical testing The c.2873T>C (p.I958T) alteration is located in exon 12 (coding exon 12) of the NPC1L1 gene. This alteration results from a T to C substitution at nucleotide position 2873, causing the isoleucine (I) at amino acid position 958 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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