ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.571G>A (p.Val191Met)

gnomAD frequency: 0.00002  dbSNP: rs146842539
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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 RCV004490940 SCV004990695 uncertain significance not specified 2024-02-27 criteria provided, single submitter clinical testing The c.571G>A (p.V191M) 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 571, causing the valine (V) at amino acid position 191 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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