ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.38C>A (p.Ala13Asp)

gnomAD frequency: 0.00001  dbSNP: rs1025904545
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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 RCV004150424 SCV003635410 uncertain significance not specified 2022-07-20 criteria provided, single submitter clinical testing The c.38C>A (p.A13D) alteration is located in exon 1 (coding exon 1) of the NPC1L1 gene. This alteration results from a C to A substitution at nucleotide position 38, causing the alanine (A) at amino acid position 13 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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