ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066672 SCV001231688 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1503 of the TUBGCP6 protein (p.Ala1503Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs200841925, ExAC 0.2%). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. 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.
Baylor Genetics RCV001329756 SCV001521281 uncertain significance Microcephaly and chorioretinopathy, autosomal recessive, 1 2020-01-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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