ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2057T>G (p.Phe686Cys)

dbSNP: rs2484336379
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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 RCV004073647 SCV003534129 uncertain significance not specified 2022-01-04 criteria provided, single submitter clinical testing The c.2057T>G (p.F686C) alteration is located in exon 6 (coding exon 6) of the NPC1L1 gene. This alteration results from a T to G substitution at nucleotide position 2057, causing the phenylalanine (F) at amino acid position 686 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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