ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1250+5G>T

gnomAD frequency: 0.00002  dbSNP: rs751221993
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712786 SCV000242275 likely pathogenic not provided 2022-12-07 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000471060 SCV000543864 uncertain significance Progressive sclerosing poliodystrophy 2022-11-04 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the POLG gene. It does not directly change the encoded amino acid sequence of the POLG protein. It affects a nucleotide within the consensus splice site. 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: 206590). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Eurofins Ntd Llc (ga) RCV000712786 SCV000707833 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712786 SCV000843314 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing

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