ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2463G>C (p.Glu821Asp)

dbSNP: rs375459615
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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 RCV002505948 SCV002817227 likely pathogenic not provided 2021-07-27 criteria provided, single submitter clinical testing This variant has been confirmed to occur de novo in an individual tested at Athena Diagnostics, who had clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this amino acid change may be damaging to the protein.This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study.

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