ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)

dbSNP: rs371410845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000261100 SCV000330814 likely pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814140 SCV002061690 likely pathogenic Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy 2021-11-05 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002519066 SCV003295770 pathogenic Actin accumulation myopathy 2022-02-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 280863). This premature translational stop signal has been observed in individual(s) with autosomal recessive ACTA1-related conditions (PMID: 19562689). This variant is present in population databases (rs371410845, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr145*) in the ACTA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACTA1 are known to be pathogenic (PMID: 19562689). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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