ClinVar Miner

Submissions for variant NM_025205.5(MED28):c.19G>A (p.Gly7Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004775658 SCV005382644 uncertain significance Focal segmental glomerulosclerosis 2019-11-13 criteria provided, single submitter clinical testing This missense variant (c.19G>A, p.Gly75Ser) has been observed at extremely low frequency in population databases (gnomAD) and has not been reported in the literature. Variant prediction programs do not show agreement regarding the effect of this variant. Insufficient evidence exists to classify this change, therefore its significance is uncertain. The change was identified as heterozygous in an affected patient.

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