ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1239CTT[1] (p.Phe414del)

dbSNP: rs2055551786
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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 RCV001049976 SCV001214059 uncertain significance Progressive sclerosing poliodystrophy 2019-01-22 criteria provided, single submitter clinical testing This variant, c.1242_1244del, results in the deletion of 1 amino acid(s) of the POLG protein (p.Phe414del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLG-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.

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