ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3328T>C (p.Phe1110Leu)

gnomAD frequency: 0.00001  dbSNP: rs753725948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928992 SCV002204416 uncertain significance Niemann-Pick disease, type C1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1110 of the NPC1 protein (p.Phe1110Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs753725948, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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