ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2253C>T

gnomAD frequency: 0.00003  dbSNP: rs201929673
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645714 SCV000767466 uncertain significance Loeys-Dietz syndrome 2 2022-03-09 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 536981). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This variant is present in population databases (rs201929673, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 612 of the TMPO protein (p.His612Tyr).

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