ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser)

dbSNP: rs2113818887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839350 SCV002099354 uncertain significance Complex cortical dysplasia with other brain malformations 7 2021-05-17 criteria provided, single submitter clinical testing The heterozygous missense variant c.1223T>C, p.Phe408Ser identified in TUBB2B has not been reported in the literature. This variant is not reported in the gnomAD database, indicating a rare allele, and in silico tools predict a deleterious effect. Based on the available evidence, the variant c.1223T>C, p.Phe408Ser in the TUBB2B gene is classified as a Variant of Uncertain Significance.

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