ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+10G>T (rs71534236)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000585968 SCV000696416 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The NPC1 c.1947+10G>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict the variant to impact normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 116580 control chromosomes. However, this variant falls into hyper variable region consisted of poly-G track and there are many alterations of this region reported in NON-PASS filter option in ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor was it evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical information and lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000585968 SCV000861052 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765407 SCV000896686 uncertain significance Niemann-Pick disease type C1 2018-10-31 criteria provided, single submitter clinical testing

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