ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225786 SCV001398078 uncertain significance Niemann-Pick disease type C1 2019-11-06 criteria provided, single submitter clinical testing This variant, c.3460_3471del, results in the deletion of 4 amino acid(s) of the NPC1 protein (p.Leu1154_Leu1157del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPC1-related conditions. This variant disrupts the p.Asn1156 amino acid residue in NPC1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9211849, 23430855, 26666848, 16098014, 17160617, 27900365). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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