ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283813 SCV002572921 likely pathogenic Progressive scapulohumeroperoneal distal myopathy 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 0.96). Different nucleotide change resulting in same amino acid change (ClinVar ID: VCV000532769 / PMID: 19562689) and different missense changes at the same codon (p.Thr150Ala, p.Thr150Asn, p.Thr150Ile; PMID: 12921789, 24787270, 24852243) have been previously reported to be associated with ACTA1-related disorder. The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID: 19562689). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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