ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1863-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1160304097
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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 RCV000803769 SCV000943655 uncertain significance Renal cell carcinoma 2022-07-19 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 648938). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 6 of the MET gene. It does not directly change the encoded amino acid sequence of the MET protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV001013438 SCV001174022 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-16 criteria provided, single submitter clinical testing The c.1863-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 6 in the MET 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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