ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1101+4G>A

gnomAD frequency: 0.00007  dbSNP: rs746210338
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653876 SCV000775766 uncertain significance Charcot-Marie-Tooth disease type 2 2022-07-25 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the MED25 gene. It does not directly change the encoded amino acid sequence of the MED25 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs746210338, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MED25-related conditions. ClinVar contains an entry for this variant (Variation ID: 329881). 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.
CeGaT Center for Human Genetics Tuebingen RCV001815314 SCV002063803 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521242 SCV003553330 uncertain significance Inborn genetic diseases 2021-09-08 criteria provided, single submitter clinical testing The c.1101+4G>A intronic alteration consists of a G to A substitution 4 nucleotides after exon 9 of the MED25 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001815314 SCV005194752 uncertain significance not provided criteria provided, single submitter not provided

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