ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1939A>C (p.Met647Leu)

dbSNP: rs750728907
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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 RCV001876715 SCV002124376 uncertain significance not provided 2021-08-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. 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 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"). This variant is present in population databases (rs750728907, ExAC 0.009%). This sequence change replaces methionine with leucine at codon 647 of the TUBGCP6 protein (p.Met647Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine.

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