ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.578C>T (p.Pro193Leu)

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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 RCV002619674 SCV003503032 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs768337269, gnomAD 0.03%). 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. 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: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with PDGFB-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 193 of the PDGFB protein (p.Pro193Leu).
Ambry Genetics RCV003269484 SCV003948179 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.578C>T (p.P193L) alteration is located in exon 5 (coding exon 5) of the PDGFB gene. This alteration results from a C to T substitution at nucleotide position 578, causing the proline (P) at amino acid position 193 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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