ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.370A>G (p.Thr124Ala)

dbSNP: rs1559428091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707189 SCV000836274 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-09-17 criteria provided, single submitter clinical testing
GeneDx RCV001759423 SCV001986075 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing Published functional studies are inconclusive: no impact on HIF1A ubiquitination, but reduced protein stability (PMID: 23772956); Observed in trans with a second VHL variant in two siblings with congenital polycythemia, but has not been reported in association with VHL syndrome (PMID: 23772956); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21715564, 24729484, 12624160, 33370224, 23772956)

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