ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1261A>G (p.Arg421Gly)

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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 RCV004650267 SCV005145876 uncertain significance not specified 2024-05-02 criteria provided, single submitter clinical testing The c.1261A>G (p.R421G) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 1261, causing the arginine (R) at amino acid position 421 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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