ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1417G>A (p.Ala473Thr)

gnomAD frequency: 0.00003  dbSNP: rs201421514
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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 RCV004271409 SCV003891317 uncertain significance not specified 2023-01-23 criteria provided, single submitter clinical testing The c.1417G>A (p.A473T) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 1417, causing the alanine (A) at amino acid position 473 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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