ClinVar Miner

Submissions for variant NM_012250.6(RRAS2):c.439C>T (p.Arg147Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003883964 SCV004701072 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing RRAS2: PP3
PreventionGenetics, part of Exact Sciences RCV003900975 SCV004709108 uncertain significance RRAS2-related disorder 2023-12-15 criteria provided, single submitter clinical testing The RRAS2 c.439C>T variant is predicted to result in the amino acid substitution p.Arg147Trp. This variant has been reported in the homozygous state in an individual from a cohort of mucopolysaccharidoses patients; however, a second potentially causative variant was also reported in the patient (Family L, Gul et al. 2023. PubMed ID: 37091798). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University RCV003155904 SCV003844061 likely pathogenic Noonan syndrome 12 no assertion criteria provided research

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