ClinVar Miner

Submissions for variant NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys)

dbSNP: rs2134048726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837682 SCV002098278 pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing Not observed at significant frequency 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: 37942564)
Pediatrics, Sichuan Provincial Hospital For Women And Children RCV003153250 SCV003840209 pathogenic Noonan syndrome 2023-03-14 criteria provided, single submitter research Physical examination showed a height of 114 cm, weight of 18 kg, head circumference of 54.5cm> 3sd, prominent forehead, high hairline, small hair volume, wide eye spacing, no nystagmus, nasal bridge collapse, high palatal arch, and widened bilateral papilla spacing. Vision and hearing
CeGaT Center for Human Genetics Tuebingen RCV001837682 SCV004033121 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing RRAS2: PM2, PM5, PP3, PS2:Supporting

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