ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1813C>T (p.Arg605Cys)

gnomAD frequency: 0.00019  dbSNP: rs202127286
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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 RCV004336417 SCV004056511 uncertain significance not specified 2023-09-12 criteria provided, single submitter clinical testing The c.1813C>T (p.R605C) alteration is located in exon 4 (coding exon 4) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 1813, causing the arginine (R) at amino acid position 605 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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