ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)

gnomAD frequency: 0.00005  dbSNP: rs761459069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001123522 SCV001282366 uncertain significance Niemann-Pick disease, type C1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001123522 SCV002360049 likely benign Niemann-Pick disease, type C1 2024-01-27 criteria provided, single submitter clinical testing

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