ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala)

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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 RCV002958121 SCV003273679 uncertain significance Hereditary spastic paraplegia 43 2022-08-08 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 54 of the C19orf12 protein (p.Gly54Ala). This variant has not been reported in the literature in individuals affected with C19orf12-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0").

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