ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6642+1G>A

dbSNP: rs1060500345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626639 SCV000747341 pathogenic Cafe-au-lait spot 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000680831 SCV000808279 pathogenic not provided 2021-05-21 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 29593478, 16835897, 25525159)
Labcorp Genetics (formerly Invitae), Labcorp RCV000703911 SCV000832837 pathogenic Neurofibromatosis, type 1 2024-04-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 42 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 16835897; Invitae). ClinVar contains an entry for this variant (Variation ID: 523343). Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (Invitae). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000703911 SCV002560195 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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