ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.572G>A (p.Arg191Gln)

gnomAD frequency: 0.00004  dbSNP: rs776409973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576492 SCV001803696 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001576492 SCV002215544 uncertain significance not provided 2021-09-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs776409973, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PDGFB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1208241). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine with glutamine at codon 191 of the PDGFB protein (p.Arg191Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.

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