ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.187T>C (p.Ser63Pro)

dbSNP: rs781006710
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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 RCV001362584 SCV001558611 uncertain significance Progressive sclerosing poliodystrophy 2020-07-21 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces serine with proline at codon 63 of the POLG protein (p.Ser63Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs781006710, ExAC 0.002%). This variant has not been reported in the literature in individuals with POLG-related conditions.
Mayo Clinic Laboratories, Mayo Clinic RCV001509501 SCV001716247 uncertain significance not provided 2019-10-20 criteria provided, single submitter clinical testing

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