Submissions for variant NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) (rs201021988)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000597184	SCV000709059	uncertain significance	not provided	2018-01-31	criteria provided, single submitter	clinical testing
Invitae	RCV001035892	SCV001199232	uncertain significance	Niemann-Pick disease type C1	2019-06-10	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with asparagine at codon 182 of the NPC1 protein (p.Asp182Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs201021988, ExAC 0.06%). This variant has not been reported in the literature in individuals with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 502363). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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