ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.811G>A (p.Ala271Thr)

dbSNP: rs139533378
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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 RCV004490942 SCV004990697 uncertain significance not specified 2024-01-24 criteria provided, single submitter clinical testing The c.811G>A (p.A271T) 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 811, causing the alanine (A) at amino acid position 271 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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