ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1641_1642del (p.Glu548fs)

dbSNP: rs2135851223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001665499 SCV001880076 pathogenic not provided 2020-09-24 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. Studies showed reduction in mRNA levels and loss of transactivation activity (PMID: 12530534, 10585442).

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