ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2685G>C (p.Glu895Asp)

dbSNP: rs2484295846
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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 RCV004365290 SCV004090380 uncertain significance not specified 2023-08-21 criteria provided, single submitter clinical testing The c.2685G>C (p.E895D) alteration is located in exon 11 (coding exon 11) of the NPC1L1 gene. This alteration results from a G to C substitution at nucleotide position 2685, causing the glutamic acid (E) at amino acid position 895 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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