ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.1808T>C (p.Met603Thr) (rs367610201)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188667 SCV000242290 pathogenic not provided 2013-07-26 criteria provided, single submitter clinical testing p.Met603Thr (ATG>ACG): c.1808 T>C in exon 10 of the POLG gene (NM_002693.2). The Met603Thr missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. However, a different amino acid substitution at the same position, Met603Leu, was identified in a patient with PEO, ptosis, and multiple mtDNA deletions in muscle who had a POLG mutation on the other chromosome (Gonzalez-Vioque et al., 2006). The Met603Thr amino acid substitution is non-conservative, as a non-polar Methionine residue is replaced by a polar Threonine residue. It alters a highly conserved position in the linker region of the protein, and multiple in silico algorithms predict it is damaging to protein structure/function. The variant is found in INFANT-EPI panel(s).

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