ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu)

gnomAD frequency: 0.00001  dbSNP: rs373316463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992687 SCV001145159 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001305114 SCV001494431 uncertain significance Progressive sclerosing poliodystrophy 2022-09-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1086 of the POLG protein (p.Ser1086Leu). This variant is present in population databases (rs373316463, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POLG-related conditions. ClinVar contains an entry for this variant (Variation ID: 805229). 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 not expected to disrupt POLG protein function. 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.

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