ClinVar Miner

Submissions for variant NM_005918.4(MDH2):c.157dup (p.Leu53fs)

dbSNP: rs782759642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002027641 SCV002307825 pathogenic not provided 2025-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu53Profs*5) in the MDH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MDH2 are known to be pathogenic (PMID: 27989324). This variant is present in population databases (rs782759642, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MDH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1520513). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002548963 SCV003684861 pathogenic Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.157dupC (p.L53Pfs*5) alteration, located in exon 2 (coding exon 2) of the MDH2 gene, consists of a duplication of C at position 157, causing a translational frameshift with a predicted alternate stop codon after 5 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the MDH2 c.157dupC alteration was observed in 0.009% (25/282,836) of total alleles studied, with a frequency of 0.02% (5/24,964) in the African subpopulation. Based on the available evidence, this alteration is classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005032132 SCV005667482 likely pathogenic Developmental and epileptic encephalopathy, 51 2024-05-21 criteria provided, single submitter clinical testing

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