ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2469+6C>A

gnomAD frequency: 0.00002  dbSNP: rs775576810
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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 RCV001248442 SCV001421929 uncertain significance EGFR-related lung cancer 2022-03-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 972415). This sequence change falls in intron 20 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 (rs775576810, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. 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 is not likely to affect RNA splicing. 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.
Myriad Genetics, Inc. RCV005245803 SCV005899587 likely benign Lung cancer 2024-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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