ClinVar Miner

Submissions for variant NM_016077.5(PTRH2):c.68T>C (p.Val23Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences RCV001293457 SCV001431507 likely pathogenic Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2020-08-01 no assertion criteria provided clinical testing We want to report an Iranian patient with a mutation in the PTRH2 gene (c.68T>C, p.V23A), which was identified by whole-exome sequencing. The proband has myopia, spastic diplegic cerebral palsy, and urolithiasis. Our case has a history of seizures; however, he does not present any intellectual disability or developmental issues, and his upper limbs and face have no dysmorphic features related to c.68T>C variant.

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