ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1712+4A>C

dbSNP: rs1555453528
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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 RCV000555695 SCV000630106 uncertain significance Progressive sclerosing poliodystrophy 2017-02-11 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the POLG gene. It does not directly change the encoded amino acid sequence of the POLG protein, but it affects a nucleotide within the consensus splice site of the intron.

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