ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.773C>T (p.Pro258Leu)

gnomAD frequency: 0.00009  dbSNP: rs565455543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363948 SCV001560080 uncertain significance not provided 2022-10-24 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 313 of the TUB protein (p.Pro313Leu). This variant is present in population databases (rs565455543, gnomAD 0.009%). 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: 1055303). 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 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.
Breakthrough Genomics, Breakthrough Genomics RCV001363948 SCV005191161 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004877706 SCV005527204 uncertain significance not specified 2024-06-28 criteria provided, single submitter clinical testing The c.938C>T (p.P313L) 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 938, causing the proline (P) at amino acid position 313 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003405611 SCV004107836 uncertain significance TUB-related disorder 2024-01-23 no assertion criteria provided clinical testing The TUB c.938C>T variant is predicted to result in the amino acid substitution p.Pro313Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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