ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile)

dbSNP: rs121908416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991481 SCV001142909 pathogenic not provided 2019-01-21 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282672 chr). Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Strong co-segregation with disease in affected individuals from a single family.
OMIM RCV000005754 SCV000025936 pathogenic Focal segmental glomerulosclerosis 1 2000-03-01 no assertion criteria provided literature only

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