ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)

dbSNP: rs1555615077
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Total submissions: 2
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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 RCV000660041 SCV000781993 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660041 SCV004297472 pathogenic Neurofibromatosis, type 1 2023-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NF1 protein in which other variant(s) (p.Gly1219Val) have been determined to be pathogenic (PMID: 31573083; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 547632). This variant is also known as c.3654_3656delAGG. This variant has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 25074460). This variant is not present in population databases (gnomAD no frequency). This variant, c.3656_3658del, results in the deletion of 1 amino acid(s) of the NF1 protein (p.Gly1219del), but otherwise preserves the integrity of the reading frame.

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