ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.431C>T (p.Pro144Leu)

gnomAD frequency: 0.00008  dbSNP: rs199680833
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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 RCV001869924 SCV002110141 uncertain significance not provided 2022-07-19 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 144 of the TUBGCP6 protein (p.Pro144Leu). This variant is present in population databases (rs199680833, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1353122). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002545749 SCV003725826 uncertain significance Inborn genetic diseases 2024-12-13 criteria provided, single submitter clinical testing The c.431C>T (p.P144L) alteration is located in exon 1 (coding exon 1) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 431, causing the proline (P) at amino acid position 144 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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