ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg)

dbSNP: rs371852394
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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 RCV002239182 SCV002509559 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-08-22 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1681666). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is present in population databases (rs371852394, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 162 of the C12orf65 protein (p.Ser162Arg).

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