ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.62C>T (p.Thr21Ile)

dbSNP: rs2034705112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001261524 SCV001424327 uncertain significance Hypomyelinating leukodystrophy 2 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV001261524 SCV005187378 uncertain significance Hypomyelinating leukodystrophy 2 2021-05-24 criteria provided, single submitter clinical testing This missense variant (c.62C>T, p.Thr21Ile) has not been observed in population databases (gnomAD) and has not been reported in the literature. Variant prediction programs suggest a deleterious effect, but no functional studies have been reported. The change was found in the homozygous state in affected twins.

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