ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.629T>C (p.Ile210Thr)

gnomAD frequency: 0.00003  dbSNP: rs773355734
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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 RCV001337610 SCV001531217 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-11-15 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SUCLA2 protein function. ClinVar contains an entry for this variant (Variation ID: 1034831). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. This variant is present in population databases (rs773355734, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 210 of the SUCLA2 protein (p.Ile210Thr).
Mayo Clinic Laboratories, Mayo Clinic RCV003481079 SCV004226433 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing PM2

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