ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.194T>C (p.Val65Ala)

dbSNP: rs2138793021
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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 RCV002239173 SCV002509579 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-09-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1681654). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 65 of the C12orf65 protein (p.Val65Ala).

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