ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.338C>G (p.Ala113Gly)

gnomAD frequency: 0.00002  dbSNP: rs200123223
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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 RCV000687084 SCV000814635 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 113 of the SUCLG1 protein (p.Ala113Gly). This variant is present in population databases (rs200123223, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 567097). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004669076 SCV005166074 uncertain significance Inborn genetic diseases 2024-05-26 criteria provided, single submitter clinical testing The c.338C>G (p.A113G) alteration is located in exon 4 (coding exon 4) of the SUCLG1 gene. This alteration results from a C to G substitution at nucleotide position 338, causing the alanine (A) at amino acid position 113 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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