ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.179G>A (p.Ser60Asn)

dbSNP: rs755437923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000790625 SCV000928330 likely pathogenic Short stature; Microcephaly; Abnormal brain morphology 2019-06-18 criteria provided, single submitter clinical testing De novo mutation occurring in trio, exome sequencing without any hint for presence in gnomAD; mutation affects highly conserved amino acid in the protein domain of ACTB, all prediction program classified variant to damaging for protein function.

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