ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.299C>A (p.Pro100His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720613 SCV005329303 uncertain significance Actin accumulation myopathy 2023-05-20 criteria provided, single submitter clinical testing The missense c.299C>A (p.Pro100His) variant in the ACTA1 gene which is located in a mutational hot spot has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. The amino acid Proline at position 100 is changed to a Histidine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Pro100His in ACTA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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