ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3568del (p.Arg1190fs)

dbSNP: rs1596348470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009078 SCV001168888 likely pathogenic not provided 2019-11-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003467588 SCV004205934 likely pathogenic Progressive sclerosing poliodystrophy 2022-10-12 criteria provided, single submitter clinical testing

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