ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg)

gnomAD frequency: 0.00025  dbSNP: rs144441199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332338 SCV001524628 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2019-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332338 SCV002253163 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 424 of the SUCLA2 protein (p.Gly424Arg). This variant is present in population databases (rs144441199, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030716). 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: "Benign"; 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 RCV004035736 SCV004959941 uncertain significance Inborn genetic diseases 2023-10-14 criteria provided, single submitter clinical testing The c.1270G>A (p.G424R) alteration is located in exon 10 (coding exon 10) of the SUCLA2 gene. This alteration results from a G to A substitution at nucleotide position 1270, causing the glycine (G) at amino acid position 424 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001332338 SCV002075107 not provided Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-23-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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