ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2909A>T (p.Tyr970Phe)

dbSNP: rs747414035
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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 RCV004327723 SCV003987249 uncertain significance not specified 2023-06-07 criteria provided, single submitter clinical testing The c.2909A>T (p.Y970F) alteration is located in exon 12 (coding exon 12) of the NPC1L1 gene. This alteration results from a A to T substitution at nucleotide position 2909, causing the tyrosine (Y) at amino acid position 970 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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