ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1298+6T>C

gnomAD frequency: 0.00001  dbSNP: rs1483303832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231488 SCV001404014 uncertain significance EGFR-related lung cancer 2023-07-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 958337). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This sequence change falls in intron 11 of the EGFR gene. It does not directly change the encoded amino acid sequence of the EGFR protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.0009%).
Sema4, Sema4 RCV002258170 SCV002537313 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter curation

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