ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)

dbSNP: rs1057518786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001865299 SCV002225806 uncertain significance Intellectual disability, autosomal dominant 5 2022-02-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 373940). This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 705 of the SYNGAP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SYNGAP1 protein. This variant also falls at the last nucleotide of exon 12, which is part of the consensus splice site for this exon.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415313 SCV000492577 likely pathogenic Global developmental delay; Stereotypic movement disorder; Delayed speech and language development; Preauricular skin tag; Generalized hypotonia 2016-05-31 no assertion criteria provided clinical testing

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