ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3933T>G (p.Phe1311Leu)

dbSNP: rs775025237
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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 RCV004110116 SCV003583051 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The c.4014T>G (p.F1338L) alteration is located in exon 20 (coding exon 20) of the NPC1L1 gene. This alteration results from a T to G substitution at nucleotide position 4014, causing the phenylalanine (F) at amino acid position 1338 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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