ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.122A>G (p.His41Arg)

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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 RCV002740322 SCV003004778 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 41 of the SUCLA2 protein (p.His41Arg). This variant is present in population databases (rs753558884, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002721382 SCV003696197 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.122A>G (p.H41R) alteration is located in exon 2 (coding exon 2) of the SUCLA2 gene. This alteration results from a A to G substitution at nucleotide position 122, causing the histidine (H) at amino acid position 41 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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