ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.532C>G (p.Arg178Gly)

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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 RCV002945548 SCV003682242 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.532C>G (p.R178G) alteration is located in exon 6 (coding exon 5) of the DYRK1B gene. This alteration results from a C to G substitution at nucleotide position 532, causing the arginine (R) at amino acid position 178 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143555 SCV003830821 uncertain significance Abdominal obesity-metabolic syndrome 3 2021-01-07 criteria provided, single submitter clinical testing

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