ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.311C>T (p.Ser104Leu)

dbSNP: rs374252961
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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 RCV004162121 SCV003645022 uncertain significance not specified 2022-09-06 criteria provided, single submitter clinical testing The c.311C>T (p.S104L) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 311, causing the serine (S) at amino acid position 104 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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