ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.736G>A (p.Asp246Asn)

gnomAD frequency: 0.00001  dbSNP: rs763743761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043651 SCV002308743 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 246 of the SUCLG1 protein (p.Asp246Asn). This variant is present in population databases (rs763743761, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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