ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1519C>A (p.Gln507Lys)

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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 RCV005379239 SCV006041490 uncertain significance not specified 2024-12-11 criteria provided, single submitter clinical testing The c.1519C>A (p.Q507K) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a C to A substitution at nucleotide position 1519, causing the glutamine (Q) at amino acid position 507 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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