ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro)

dbSNP: rs756958534
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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 RCV002267599 SCV002549727 uncertain significance Torsion dystonia 4 2022-07-21 criteria provided, single submitter clinical testing The variant c.722G>C (p.(Arg241Pro)) in exon 4 of the TUBB4A-gene is not found in the gnomAD database, it affects a highly conserved nucleotide, a highly conserved amino acid within a protein domain and there is a moderate physicochemical difference between Arg and Pro. This variant has a pathogenic computational verdict based on in silico predictions algorithms. Variant was inherited from unaffected father. ACMG criteria used for classification: PM2, PP2, PP3, BS2.

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