ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1862C>T (p.Pro621Leu)

dbSNP: rs1303230782
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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 RCV001823520 SCV002073013 uncertain significance Congenital myasthenic syndrome 8 criteria provided, single submitter clinical testing The missense variant p.P621L in AGRN (NM_198576.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.P621L variant is observed in 1/30,518 (0.0033%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. In silico tools are contradictory in their predictions (SIFT-Tolerate, Polyphen-2-Damaging) and the residue is semiconserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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