ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3203C>G (p.Ala1068Gly)

gnomAD frequency: 0.00001  dbSNP: rs767626455
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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 RCV004265224 SCV003892667 uncertain significance not specified 2023-01-20 criteria provided, single submitter clinical testing The c.3284C>G (p.A1095G) alteration is located in exon 16 (coding exon 16) of the NPC1L1 gene. This alteration results from a C to G substitution at nucleotide position 3284, causing the alanine (A) at amino acid position 1095 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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