Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853386 | SCV000996261 | likely pathogenic | Actin accumulation myopathy | 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. |