ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1275A>G

gnomAD frequency: 0.00001  dbSNP: rs763320036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051308 SCV001215454 uncertain significance Loeys-Dietz syndrome 2 2021-04-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TMPO-related conditions. This variant is present in population databases (rs763320036, ExAC 0.03%). This sequence change replaces arginine with glycine at codon 286 of the TMPO protein (p.Arg286Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117725 SCV003800935 uncertain significance not specified 2023-01-21 criteria provided, single submitter clinical testing

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