ClinVar Miner

Submissions for variant NM_005918.4(MDH2):c.755C>T (p.Ala252Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394010 SCV002672867 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.755C>T (p.A252V) alteration is located in exon 8 (coding exon 8) of the MDH2 gene. This alteration results from a C to T substitution at nucleotide position 755, causing the alanine (A) at amino acid position 252 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468663 SCV002764787 likely pathogenic Developmental and epileptic encephalopathy, 51 2021-03-29 criteria provided, single submitter clinical testing

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