ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.3G>C (p.Met1Ile)

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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 RCV004723687 SCV005329338 uncertain significance Congenital myopathy 2b, severe infantile, autosomal recessive 2023-05-20 criteria provided, single submitter clinical testing The observed start lost c.3G>C(p.Met1?) variant in ACTA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The p.Met1? variant is predicted to disrupt the initiation codon, and thus potentially may interfere with protein expression. However, no details are available for independent assessment. Computational evidence (MutationTaster - Disease causing) predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance. The same variant in ACTA1 [c.3G>C(p.Met1?)] gene has been detected in heterozygous state in both father and mother. In the absence of another reportable variant in proband, the molecular diagnosis is not confirmed.

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