ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.116_118del (p.Gln39del)

dbSNP: rs763663907
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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 RCV001916753 SCV002196731 uncertain significance Progressive sclerosing poliodystrophy 2022-06-28 criteria provided, single submitter clinical testing This variant, c.116_118del, results in the deletion of 1 amino acid(s) of the POLG protein (p.Gln39del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs763663907, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POLG-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
PreventionGenetics, part of Exact Sciences RCV003985857 SCV004113770 uncertain significance POLG-related disorder 2024-02-21 criteria provided, single submitter clinical testing The POLG c.116_118delAGC variant is predicted to result in an in-frame deletion (p.Gln39del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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