ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)

dbSNP: rs145362908
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598092 SCV000704761 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV000688651 SCV000816273 likely benign Niemann-Pick disease, type C1 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000688651 SCV000896684 uncertain significance Niemann-Pick disease, type C1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000688651 SCV001282243 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.
CeGaT Center for Human Genetics Tuebingen RCV000598092 SCV001371368 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000688651 SCV001528303 uncertain significance Niemann-Pick disease, type C1 2018-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003935608 SCV004751689 likely benign NPC1-related disorder 2022-02-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000688651 SCV001455863 likely benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing

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