ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.577dup (p.Glu193fs)

dbSNP: rs1131692000
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494260 SCV000583336 likely pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PRRT2 gene. The c.577dupG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.577dupG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.577dupG variant gene causes a frameshift starting with codon Glutamic acid 193, changes this amino acid to a Glysine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Glu193GlyfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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