ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)

dbSNP: rs1942173367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001254936 SCV001365471 pathogenic Lissencephaly due to TUBA1A mutation 2020-06-29 criteria provided, single submitter clinical testing The variant c.545T>C (p.(Val182Ala)) in the TUBA1A-gene was found to be de novo, it affects a highly conserved nucleotide and a highly conserved amino acid and is located within a functional protein domain. Also it is absent from common databases as gnomAD or ExAC. A different sequence change (c.544G>T), which affects the same codon as the c.545T>C mutation but leads to a different amino acid exchange (p.(Val182APhe)), has already been described as pathogenic in affected individuals (Hebebrand et al. (2019), PMID: 30744660). ACMG criteria used for classification: PS2, PM1, PM2, PM5, PP2

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