ClinVar Miner

Submissions for variant NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro)

gnomAD frequency: 0.00001  dbSNP: rs746446116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200702 SCV000251169 likely pathogenic not provided 2013-06-25 criteria provided, single submitter clinical testing p.Leu262Pro (CTG>CCG): c.785 T>C in exon 8 of the ATPAF2 gene (NM_145691.3). The L262P missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is semi-conservative as both Leucine and Proline are uncharged, non-polar amino acids, but the introduction of Proline with its unique ring structure may affect the secondary structure of the ATPAF2 protein. This change occurs at a highly conserved position in the ATPAF2 protein, and multiple in-silico analysis programs predict that L262P is damaging to the ATPAF2 protein. Therefore, L262P is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
New York Genome Center RCV001838990 SCV002099375 uncertain significance Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 2021-02-26 criteria provided, single submitter clinical testing

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