ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2021C>T (p.Ala674Val)

dbSNP: rs2484336664
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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 RCV004490929 SCV004990683 uncertain significance not specified 2024-03-07 criteria provided, single submitter clinical testing The c.2021C>T (p.A674V) alteration is located in exon 6 (coding exon 6) of the NPC1L1 gene. This alteration results from a C to T substitution at nucleotide position 2021, causing the alanine (A) at amino acid position 674 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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