ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.193_194delinsAA (p.Gly65Asn)

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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 RCV002774897 SCV003015898 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 65 of the SUCLG1 protein (p.Gly65Asn). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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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