ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1111G>T (p.Val371Phe)

gnomAD frequency: 0.00001  dbSNP: rs148859805
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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 RCV004304667 SCV003965440 uncertain significance not specified 2023-05-08 criteria provided, single submitter clinical testing The c.1111G>T (p.V371F) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a G to T substitution at nucleotide position 1111, causing the valine (V) at amino acid position 371 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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