ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)

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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 RCV003340790 SCV004047511 uncertain significance Congenital myasthenic syndrome 1A criteria provided, single submitter clinical testing The missense variant c.1003G>T (p.Val335Phe) in CHRNA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val335Phe variant has allele frequency 0.0003% in gnomAD exomes and novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Val at position 335 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Val335Phe in CHRNA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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