ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853386 SCV000996261 likely pathogenic Nemaline myopathy 3 2019-03-08 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. Other variants at this nucleotide position have been reported in two individuals with autosomal dominant nemaline myopathy and variants in this exon are frequently associated with autosomal dominant inheritance (PMID: 16967490, 19562689). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. In silico analyses support a deleterious effect of the c.1130T>C (p.Phe377Ser) variant on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1130T>C (p.Phe377Ser) variant is classified as Likely pathogenic.

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