ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2777A>G (p.Asn926Ser)

gnomAD frequency: 0.00003  dbSNP: rs150891392
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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 RCV004216033 SCV003716931 uncertain significance not specified 2021-09-14 criteria provided, single submitter clinical testing The c.2777A>G (p.N926S) alteration is located in exon 11 (coding exon 11) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 2777, causing the asparagine (N) at amino acid position 926 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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