ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)

dbSNP: rs1057523533
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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 RCV000660106 SCV000782090 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000660106 SCV001478960 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Invitae RCV000660106 SCV002271393 likely pathogenic Neurofibromatosis, type 1 2021-11-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing, but the impact on the resulting protein product is unknown (PMID: 10862084, 27074763). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 547685). This variant is also known as c.6921G>A. This missense change has been observed in individual(s) with Neurofibromatosis, type 1 and/or NF1-related conditions (PMID: 10862084; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2286 of the NF1 protein (p.Lys2286Asn). This variant also falls at the last nucleotide of exon 45, which is part of the consensus splice site for this exon.
Genome-Nilou Lab RCV000660106 SCV002560220 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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