ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3740C>G (p.Thr1247Ser)

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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 RCV004650266 SCV005145874 uncertain significance not specified 2024-06-05 criteria provided, single submitter clinical testing The c.3821C>G (p.T1274S) alteration is located in exon 19 (coding exon 19) of the NPC1L1 gene. This alteration results from a C to G substitution at nucleotide position 3821, causing the threonine (T) at amino acid position 1274 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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