ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3218del (p.Met1073fs)

gnomAD frequency: 0.00002  dbSNP: rs756442272
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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 RCV000543893 SCV000630646 uncertain significance Gastrointestinal stromal tumor 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1073Argfs*6) in the PDGFRA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the PDGFRA protein. This variant is present in population databases (rs756442272, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 459090). 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.
Ambry Genetics RCV001019296 SCV001180632 likely benign Hereditary cancer-predisposing syndrome 2024-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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