ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile)

dbSNP: rs1565221699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV003330090 SCV004037350 uncertain significance Focal segmental glomerulosclerosis 2 2019-11-04 criteria provided, single submitter clinical testing The c.266G>T variant is a missense variant that substitutes a serine residue to an isoleucine at amino acid position 89 (p.Ser89Ile). This variant localizes to coding exon 2 of the TRPC6 gene (13 coding exons in total; NM_004621.5). Most reported pathogenic variants in TRPC6 are missense. However, to the best of our knowledge, this variant has not been reported in the literature previously. It was also absent in the genome aggregation database (gnomAD), indicating it is not a common benign variant in the population represented in the database. In silico predictors show mixed results for this variant.
Gharavi Laboratory, Columbia University RCV000681839 SCV000809316 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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