ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1637A>T (p.Tyr546Phe)

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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 RCV004838013 SCV005462414 uncertain significance not specified 2024-11-24 criteria provided, single submitter clinical testing The c.1637A>T (p.Y546F) alteration is located in exon 3 (coding exon 3) of the NPC1L1 gene. This alteration results from a A to T substitution at nucleotide position 1637, causing the tyrosine (Y) at amino acid position 546 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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