ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1079T>C (p.Val360Ala)

gnomAD frequency: 0.00001  dbSNP: rs760837609
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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 RCV004490920 SCV004990673 uncertain significance not specified 2024-01-31 criteria provided, single submitter clinical testing The c.1079T>C (p.V360A) 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 1079, causing the valine (V) at amino acid position 360 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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