ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn)

gnomAD frequency: 0.00002  dbSNP: rs773644413
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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 RCV002239180 SCV002509473 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-01-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1681664). 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is present in population databases (rs773644413, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 153 of the C12orf65 protein (p.Lys153Asn).

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