ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4001C>T (p.Ser1334Leu)

gnomAD frequency: 0.00001  dbSNP: rs778863982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300779 SCV001489928 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1334 of the TUBGCP6 protein (p.Ser1334Leu). This variant is present in population databases (rs778863982, gnomAD 0.006%). 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: 1004125). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001329148 SCV001520488 uncertain significance Microcephaly and chorioretinopathy 1 2019-08-05 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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