ClinVar Miner

Submissions for variant NM_006014.5(LAGE3):c.262C>T (p.Pro88Ser)

dbSNP: rs2523105815
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388797 SCV004100631 uncertain significance Galloway-Mowat syndrome 2, X-linked criteria provided, single submitter clinical testing The missense variant p.P88S in LAGE3 (NM_006014.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.P88S variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. In silico tools are contradictory (SIFT-Tolerated, Polyphen- damaging) and the residue is moderately conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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