ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr)

dbSNP: rs1561826815
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678308 SCV000804367 uncertain significance Complex cortical dysplasia with other brain malformations 7 2018-02-26 criteria provided, single submitter provider interpretation This variant was identified in a 4 year old male with mild global developmental delays, receptive/expressive language disorder, hypotonia, microcephaly, and short stature. Brain MRI revealed pachygyria. Ophthalmology and endocrinology evaluations were normal. This patient's mother, who carries this variant, has learning disability; she has not had subsequent brain imaging. This variant is absent from the gnomAD database. Computational models predict it to be deleterious. It has not been previously reported in the literature, to our knowledge.

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