ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1930T>G (p.Phe644Val)

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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 RCV004650271 SCV005145880 uncertain significance not specified 2024-04-26 criteria provided, single submitter clinical testing The c.1930T>G (p.F644V) alteration is located in exon 5 (coding exon 5) of the NPC1L1 gene. This alteration results from a T to G substitution at nucleotide position 1930, causing the phenylalanine (F) at amino acid position 644 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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