ClinVar Miner

Submissions for variant NM_003483.6(HMGA2):c.198+1G>A

dbSNP: rs1241586108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003993701 SCV004811994 uncertain significance Silver-Russell syndrome 5 2024-04-10 criteria provided, single submitter clinical testing The variant is listed in gnomAD with a frequency of 0.0031867% (1/31380) and listed in the dbSNP under rs1241586108 as of April 2024. The variant is predicted to have a splicing impact. The ACMG criteria are PVS1_strong and PM2. Segregation within the familiy showed that both affected individuals carried the variant.

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