ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3224A>G (p.Asn1075Ser)

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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 RCV004650264 SCV005145871 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing The c.3305A>G (p.N1102S) alteration is located in exon 16 (coding exon 16) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 3305, causing the asparagine (N) at amino acid position 1102 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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