ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.3313G>C (p.Ala1105Pro) (rs753410045)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188617 SCV000242240 pathogenic not provided 2013-04-01 criteria provided, single submitter clinical testing p.Ala1105Pro (GCT>CCT): c.3313 G>C in exon 21 of the POLG gene (NM_002693.2). The A1105P mutation in the POLG gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. A1105P is a semi-conservative amino acid substitution as both Alanine and Proline are uncharged, non-polar residues; however, the introduction of a Proline, which has a unique ring structure may affect the secondary structure of the POLG protein. This change occurs at a position in the POLG protein that is highly conserved and a disease causing mutation, p.A1105T, has been previously reported at this same location (Luoma et al., 2004; Wanrooij et al., 2004). Additionally, multiple in silico algorithms predict that A1105P is damaging to the POLG protein. Therefore, we interpret A1105P to be a disease-causing mutation. The variant is found in OAPEO-MITOP panel(s).

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