ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2950G>A (p.Val984Ile)

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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 RCV004644073 SCV005145873 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.2950G>A (p.V984I) alteration is located in exon 12 (coding exon 12) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 2950, causing the valine (V) at amino acid position 984 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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