ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1531A>G (p.Thr511Ala) (rs1555636594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590790 SCV000696404 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The NPC1 c.1531A>G (p.Thr511Ala) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome (SNPs&GO not captured due to low reliability index). This variant is absent from 120794 control chromosomes. 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.

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