ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1846A>G (p.Met616Val)

gnomAD frequency: 0.00019  dbSNP: rs145554241
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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 RCV004252166 SCV003871389 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.1846A>G (p.M616V) alteration is located in exon 4 (coding exon 4) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 1846, causing the methionine (M) at amino acid position 616 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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