ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3G>C (p.Met1Ile)

gnomAD frequency: 0.00002  dbSNP: rs878877754
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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 RCV001899454 SCV002130133 uncertain significance Progressive sclerosing poliodystrophy 2023-09-08 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1370922). Disruption of the initiator codon has been observed in individual(s) with Alpers syndrome (PMID: 31665838). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects the initiator methionine of the POLG mRNA. The next in-frame methionine is located at codon 78.

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