ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.13G>A (p.Gly5Ser)

dbSNP: rs759412002
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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 RCV004257316 SCV003883755 uncertain significance not specified 2023-02-22 criteria provided, single submitter clinical testing The c.13G>A (p.G5S) alteration is located in exon 1 (coding exon 1) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 13, causing the glycine (G) at amino acid position 5 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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