ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.640A>G (p.Thr214Ala)

gnomAD frequency: 0.00001  dbSNP: rs35594530
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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 RCV001878347 SCV002119453 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 214 of the SUCLG1 protein (p.Thr214Ala). This variant is present in population databases (rs35594530, gnomAD 0.01%). 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: 1357425). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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