ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3797_3798delinsAC (p.Arg1266His)

dbSNP: rs2058535881
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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 RCV001338951 SCV001532656 uncertain significance Niemann-Pick disease, type C1 2022-01-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1036007). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1266 of the NPC1 protein (p.Arg1266His). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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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