ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.2T>C (p.Met1Thr)

dbSNP: rs764309455
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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 RCV002237746 SCV002510923 uncertain significance Hereditary spastic paraplegia 43 2021-11-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 12 of the C19orf12 protein (p.Met12Thr). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with C19orf12-related conditions. This variant is present in population databases (rs764309455, gnomAD 0.0009%).

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