ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2302G>A (p.Ala768Thr)

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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 RCV005379241 SCV006041493 uncertain significance not specified 2025-02-25 criteria provided, single submitter clinical testing The c.2302G>A (p.A768T) alteration is located in exon 8 (coding exon 8) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 2302, causing the alanine (A) at amino acid position 768 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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