ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6704+1G>T (rs1060500376)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660100 SCV000782081 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000710035 SCV000840410 pathogenic Neurofibromatosis-Noonan syndrome 2018-02-19 criteria provided, single submitter clinical testing
Invitae RCV000660100 SCV000943202 pathogenic Neurofibromatosis, type 1 2019-12-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 43 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with neurofibromatosis type 1 (NF1) (PMID: 9783703) and in an individual suspected to have NF1 (PMID: 23758643). ClinVar contains an entry for this variant (Variation ID: 547680). Experimental studies have shown that this variant results in skipping of exon 44. Exon 44 is also known as exon 35 in the literature (PMID: 9783703). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001025489 SCV001187688 pathogenic Hereditary cancer-predisposing syndrome 2019-02-04 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);Well-characterized mutation at same position

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