ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser)

gnomAD frequency: 0.00002  dbSNP: rs757603372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316810 SCV000850561 uncertain significance Inborn genetic diseases 2017-05-26 criteria provided, single submitter clinical testing The p.P531S variant (also known as c.1591C>T), located in coding exon 10 of the DYRK1A gene, results from a C to T substitution at nucleotide position 1591. The proline at codon 531 is replaced by serine, an amino acid with some 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.
Invitae RCV001868362 SCV002220085 benign DYRK1A-related intellectual disability syndrome 2023-09-06 criteria provided, single submitter clinical testing

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