ClinVar Miner

Submissions for variant NM_000345.4(SNCA):c.349C>A (p.Pro117Thr)

gnomAD frequency: 0.00016  dbSNP: rs145138372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808297 SCV000948401 uncertain significance Lewy body dementia; Autosomal dominant Parkinson disease 1 2021-09-22 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 652694). This variant has not been reported in the literature in individuals affected with SNCA-related conditions. This variant is present in population databases (rs145138372, ExAC 0.01%). This sequence change replaces proline with threonine at codon 117 of the SNCA protein (p.Pro117Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine.
Fulgent Genetics, Fulgent Genetics RCV002478876 SCV002783498 uncertain significance Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant Parkinson disease 4 2022-04-21 criteria provided, single submitter clinical testing

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