ClinVar Miner

Submissions for variant NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu)

dbSNP: rs1555631383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502352 SCV000597737 uncertain significance not specified 2016-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000584961 SCV000692906 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000584961 SCV003461818 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 437135). This missense change has been observed in individual(s) with cortical malformation (PMID: 29706637). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 259 of the TUBG1 protein (p.Ser259Leu). Experimental studies have shown that this missense change affects TUBG1 function (PMID: 31086189). For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291453 SCV001479957 likely pathogenic Lissencephaly no assertion criteria provided research

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