ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.640A>C (p.Thr214Pro)

dbSNP: rs35594530
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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 RCV001339120 SCV001532841 uncertain significance Mitochondrial DNA depletion syndrome 9 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 214 of the SUCLG1 protein (p.Thr214Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002547383 SCV003601141 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.640A>C (p.T214P) alteration is located in exon 6 (coding exon 6) of the SUCLG1 gene. This alteration results from a A to C substitution at nucleotide position 640, causing the threonine (T) at amino acid position 214 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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