ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn)

dbSNP: rs397515462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000056273 SCV000746408 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2017-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000056273 SCV004297200 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-08-10 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of SUCLA2-related conditions (PMID: 23759946). It has also been observed to segregate with disease in related individuals. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SUCLA2 protein function. ClinVar contains an entry for this variant (Variation ID: 66034). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 251 of the SUCLA2 protein (p.Asp251Asn).
OMIM RCV000056273 SCV000087445 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2013-08-01 no assertion criteria provided literature only

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