ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.458T>C (p.Val153Ala)

gnomAD frequency: 0.00007  dbSNP: rs762931835
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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 RCV004490938 SCV004990693 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.458T>C (p.V153A) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a T to C substitution at nucleotide position 458, causing the valine (V) at amino acid position 153 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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