ClinVar Miner

Submissions for variant NM_006901.4(MYO9A):c.4807G>A (p.Val1603Met)

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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 RCV003447885 SCV004175816 uncertain significance Myasthenic syndrome, congenital, 24, presynaptic 2023-02-14 criteria provided, single submitter clinical testing The missense variant c.4807G>A (p.Val1603Met) in the MYO9A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.03%) in the gnomAD Exomes and novel (not in any individuals) in 1000 Genomes. The amino acid Valine at position 1603 is changed to a Methionine changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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