ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.38C>G (p.Thr13Ser)

gnomAD frequency: 0.00001  dbSNP: rs1199924512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712808 SCV000843341 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001052244 SCV001216445 uncertain significance Progressive sclerosing poliodystrophy 2022-09-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 13 of the POLG protein (p.Thr13Ser). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 586363). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849071 SCV002104881 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360848 SCV002623909 uncertain significance Inborn genetic diseases 2017-12-18 criteria provided, single submitter clinical testing The p.T13S variant (also known as c.38C>G), located in coding exon 1 of the POLG gene, results from a C to G substitution at nucleotide position 38. The threonine at codon 13 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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