ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3518C>T (p.Ser1173Leu)

gnomAD frequency: 0.00005  dbSNP: rs528352114
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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 RCV004181675 SCV003681524 uncertain significance not specified 2024-10-17 criteria provided, single submitter clinical testing The c.3599C>T (p.S1200L) alteration is located in exon 17 (coding exon 17) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 3599, causing the serine (S) at amino acid position 1200 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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