ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1842C>T (p.Tyr614=)

gnomAD frequency: 0.00009  dbSNP: rs62640033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729059 SCV000856695 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000729059 SCV001145149 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV001502376 SCV001707209 likely benign Progressive sclerosing poliodystrophy 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985810 SCV004715089 likely benign POLG-related disorder 2021-11-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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