ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3137-1261C>T

gnomAD frequency: 0.00001  dbSNP: rs7799594
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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 RCV004155471 SCV003635793 uncertain significance not specified 2022-08-16 criteria provided, single submitter clinical testing The c.3185C>T (p.S1062L) alteration is located in exon 15 (coding exon 15) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 3185, causing the serine (S) at amino acid position 1062 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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