ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1789T>G (p.Leu597Val)

gnomAD frequency: 0.00001  dbSNP: rs536539929
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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 RCV004098168 SCV003557686 uncertain significance not specified 2021-07-06 criteria provided, single submitter clinical testing The c.1789T>G (p.L597V) alteration is located in exon 4 (coding exon 4) of the NPC1L1 gene. This alteration results from a T to G substitution at nucleotide position 1789, causing the leucine (L) at amino acid position 597 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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