ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs)

dbSNP: rs1574007436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825633 SCV000966995 likely pathogenic Congenital myasthenic syndrome 2018-10-02 criteria provided, single submitter clinical testing The p.Lys152SerfsX18 variant in CHRNA1 has not been previously reported in indiv iduals with congenital myasthenic syndrome or lethal multiple pterygium syndrome and was absent from large population studies. This variant is predicted to caus e a frameshift, which alters the protein?s amino acid sequence beginning at posi tion 152 and leads to a premature termination codon 18 amino acids downstream. T his alteration is then predicted to lead to a truncated or absent protein. Biall elic loss of function variants have been reported as disease causing for both co ngenital myasthenic syndrome and lethal multiple pterygium syndrome. In summary, although additional studies are required to fully establish its clinical signif icance, the p.Lys152SerfsX18 variant is likely pathogenic. ACMG/AMP criteria app lied: PVS1_Strong, PM2.

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