ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)

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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 RCV002929001 SCV003274190 uncertain significance Loeys-Dietz syndrome 2 2023-08-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 70 of the TMPO protein (p.Glu70Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMPO-related conditions. ClinVar contains an entry for this variant (Variation ID: 2065185). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004877764 SCV005526583 uncertain significance not specified 2024-11-15 criteria provided, single submitter clinical testing The c.210G>T (p.E70D) alteration is located in exon 1 (coding exon 1) of the TMPO gene. This alteration results from a G to T substitution at nucleotide position 210, causing the glutamic acid (E) at amino acid position 70 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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