ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3863T>C (p.Met1288Thr)

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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 RCV004838015 SCV005462416 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.3944T>C (p.M1315T) alteration is located in exon 20 (coding exon 20) of the NPC1L1 gene. This alteration results from a T to C substitution at nucleotide position 3944, causing the methionine (M) at amino acid position 1315 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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