ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.149A>C (p.Tyr50Ser)

dbSNP: rs730880113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003407587 SCV004113714 uncertain significance INF2-related disorder 2023-09-19 criteria provided, single submitter clinical testing The INF2 c.149A>C variant is predicted to result in the amino acid substitution p.Tyr50Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. However, an alternative missense change at the same amino acid position (i.e. p.Tyr50Asp) segregated with disease in five affected family members with adult-onset nephrotic syndrome (Sen et al. 2017. PubMed ID: 28780565). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Blueprint Genetics RCV000157249 SCV000206979 uncertain significance Proteinuria 2014-11-28 no assertion criteria provided clinical testing

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