ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3091_3092del (p.Glu1031fs)

dbSNP: rs1555452607
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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 RCV000526093 SCV000630138 pathogenic Progressive sclerosing poliodystrophy 2017-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in POLG are known to be pathogenic (PMID: 18546365). This variant has not been reported in the literature in individuals with a POLG-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1031Asnfs*15) in the POLG gene. It is expected to result in an absent or disrupted protein product.

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