ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.750C>G (p.Asp250Glu)

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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 RCV004838023 SCV005462424 uncertain significance not specified 2024-11-09 criteria provided, single submitter clinical testing The c.750C>G (p.D250E) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a C to G substitution at nucleotide position 750, causing the aspartic acid (D) at amino acid position 250 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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