ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1688A>G (p.Asp563Gly)

gnomAD frequency: 0.00001  dbSNP: rs200336622
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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 RCV004159486 SCV003654755 uncertain significance not specified 2022-10-04 criteria provided, single submitter clinical testing The c.1688A>G (p.D563G) alteration is located in exon 4 (coding exon 4) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 1688, causing the aspartic acid (D) at amino acid position 563 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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