ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup)

dbSNP: rs41550117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697437 SCV000716299 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854151 SCV002176534 uncertain significance Progressive sclerosing poliodystrophy 2024-10-31 criteria provided, single submitter clinical testing This variant, c.141_158dup, results in the insertion of 6 amino acid(s) of the POLG protein (p.Gln50_Gln55dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 507643). 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 RCV004732974 SCV005363011 uncertain significance POLG-related disorder 2024-04-18 no assertion criteria provided clinical testing The POLG c.141_158dup18 variant is predicted to result in an in-frame duplication (p.Gln50_Gln55dup). This variant is located in the glutamine (Gln) repeat region of exon 2 and to our knowledge, repeat variations in this region have not been reported to be conclusively related to human diseases in the literature. In ClinVar, these repeat variations were classified as a variant of uncertain significance or likely benign/benign (https://www.ncbi.nlm.nih.gov/clinvar/). Although we suspect this repeat variant is benign, 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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