ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1415A>G (p.Tyr472Cys)

gnomAD frequency: 0.00002  dbSNP: rs1043056592
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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 RCV004265005 SCV003889445 uncertain significance not specified 2023-01-10 criteria provided, single submitter clinical testing The c.1415A>G (p.Y472C) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a A to G substitution at nucleotide position 1415, causing the tyrosine (Y) at amino acid position 472 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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