ClinVar Miner

Submissions for variant NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)

dbSNP: rs1114167319
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223633 SCV003919350 pathogenic not provided 2022-10-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28796236)
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie RCV000491113 SCV000297814 pathogenic Silver-Russell syndrome 1 no assertion criteria provided research
OMIM RCV001174518 SCV001337658 pathogenic Silver-Russell syndrome 5 2024-02-13 no assertion criteria provided literature only

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