ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1655T>C (p.Leu552Pro)

gnomAD frequency: 0.00001  dbSNP: rs2055522665
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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 RCV001236505 SCV001409231 uncertain significance Progressive sclerosing poliodystrophy 2022-08-31 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt POLG protein function. ClinVar contains an entry for this variant (Variation ID: 962618). This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 552 of the POLG protein (p.Leu552Pro).
CeGaT Center for Human Genetics Tuebingen RCV002264242 SCV002545308 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing POLG: PM2, PM3

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