ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.647C>T (p.Ser216Phe)

dbSNP: rs763592738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986384 SCV002287238 uncertain significance Progressive sclerosing poliodystrophy 2023-06-24 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: 1491241). This variant has not been reported in the literature in individuals affected with POLG-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 216 of the POLG protein (p.Ser216Phe).

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