ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs)

dbSNP: rs1131691635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493033 SCV000582524 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing The c.1792delC variant in the SYNGAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1792delC variant causes a frameshift starting with codon Leucine 598, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Leu598SerfsX52. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1792delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1792delC as a pathogenic variant.

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