ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1565T>G (p.Phe522Cys)

dbSNP: rs1376703649
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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 RCV004490923 SCV004990677 uncertain significance not specified 2024-01-02 criteria provided, single submitter clinical testing The c.1565T>G (p.F522C) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a T to G substitution at nucleotide position 1565, causing the phenylalanine (F) at amino acid position 522 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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