ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4577+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1060500246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470813 SCV000541969 likely benign Neurofibromatosis, type 1 2024-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318497 SCV000666598 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-08-24 criteria provided, single submitter clinical testing The c.4514+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 33 in the NF1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000470813 SCV002560445 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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