ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.682G>C (p.Ala228Pro)

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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 RCV004838022 SCV005462423 uncertain significance not specified 2024-10-29 criteria provided, single submitter clinical testing The c.682G>C (p.A228P) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a G to C substitution at nucleotide position 682, causing the alanine (A) at amino acid position 228 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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