ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2224A>G

gnomAD frequency: 0.00098  dbSNP: rs34983516
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Total submissions: 6
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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 RCV000154859 SCV000204541 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing Gln602Arg in exon 4A of TMPO: This variant is not expected to have clinical sign ificance due to its frequency in the general population as well as a lack of evo lutionary conservation. It has been identified in 0.34% (15/4406) of African Ame rican chromosomes by the NHLBI Exome Sequencing Project and 2 mammals have an ar ginine (Arg) at this position despite high nearby amino acid conservation.
Ambry Genetics RCV000154859 SCV000320425 likely benign not specified 2015-11-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001719964 SCV000518216 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865214 SCV001006146 likely benign Loeys-Dietz syndrome 2 2025-01-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154859 SCV004038102 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917517 SCV004741961 likely benign TMPO-related disorder 2021-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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