ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2093A>G (p.Asn698Ser)

gnomAD frequency: 0.00004  dbSNP: rs151303959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649320 SCV000771147 likely benign DYRK1A-related intellectual disability syndrome 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422378 SCV002726041 uncertain significance Inborn genetic diseases 2018-10-11 criteria provided, single submitter clinical testing The p.N707S variant (also known as c.2120A>G), located in coding exon 11 of the DYRK1A gene, results from an A to G substitution at nucleotide position 2120. The asparagine at codon 707 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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