ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.1126A>T (p.Thr376Ser)

dbSNP: rs549357298
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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 RCV004223690 SCV003726147 uncertain significance not specified 2022-02-03 criteria provided, single submitter clinical testing The c.1126A>T (p.T376S) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a A to T substitution at nucleotide position 1126, causing the threonine (T) at amino acid position 376 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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