ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu)

gnomAD frequency: 0.00001  dbSNP: rs764933537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199524 SCV000251554 uncertain significance not provided 2014-07-17 criteria provided, single submitter clinical testing .p.Pro722Leu (CCA>CTA): c.2165 C>T in exon 18 of the GFM1 gene (NM_024996.5). The P722L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The P722L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001835722 SCV002079075 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2019-10-28 no assertion criteria provided clinical testing

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