ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.924del (p.Leu309fs)

dbSNP: rs2074049374
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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 RCV001340978 SCV001534814 uncertain significance Charcot-Marie-Tooth disease type 2 2020-07-26 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MED25 cause disease. This variant has not been reported in the literature in individuals with MED25-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu309Serfs*68) in the MED25 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002546921 SCV003582300 pathogenic Inborn genetic diseases 2022-01-06 criteria provided, single submitter clinical testing The c.924delT (p.L309Sfs*68) alteration, located in exon 9 (coding exon 9) of the MED25 gene, consists of a deletion of one nucleotide at position 924, causing a translational frameshift with a predicted alternate stop codon after 68 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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