ClinVar Miner

Submissions for variant NM_001145308.5(LRTOMT):c.844A>C (p.Ile282Leu)

gnomAD frequency: 0.00014  dbSNP: rs727503153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150999 SCV000198692 likely benign not specified 2013-05-31 criteria provided, single submitter clinical testing Ile282Leu in exon 7 of LRTOMT: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, shrew, wallaby and opossum have a leucine (Leu) at this position despite hig h nearby amino acid conservation. In addition, computational analyses (PolyPhen2 , SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
GeneDx RCV002051818 SCV002319042 uncertain significance not provided 2022-03-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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