ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp)

dbSNP: rs2138792679
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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 RCV002239171 SCV002509535 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 35 of the C12orf65 protein (p.Gly35Asp). 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. 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: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1681652). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

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