ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.728C>T (p.Pro243Leu)

dbSNP: rs1944038804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362062 SCV001558060 uncertain significance not provided 2024-03-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 298 of the TUB protein (p.Pro298Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TUB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053687). 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 tolerated. 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 RCV004036822 SCV003571842 uncertain significance not specified 2021-08-16 criteria provided, single submitter clinical testing The c.893C>T (p.P298L) alteration is located in exon 8 (coding exon 8) of the TUB gene. This alteration results from a C to T substitution at nucleotide position 893, causing the proline (P) at amino acid position 298 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
New York Genome Center RCV003227965 SCV003925329 uncertain significance Retinal dystrophy and obesity 2022-09-16 criteria provided, single submitter clinical testing

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