Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232812 | SCV000289165 | likely benign | Gastrointestinal stromal tumor | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012503 | SCV001172963 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-24 | criteria provided, single submitter | clinical testing | The p.V544A variant (also known as c.1631T>C), located in coding exon 10 of the PDGFRA gene, results from a T to C substitution at nucleotide position 1631. The valine at codon 544 is replaced by alanine, an amino acid with similar properties. This variant has been identified in an individual with isolated cleft palate, a cohort of 681 ancestrally diverse, healthy subjects, and at least one patient with a personal and family history of breast and/or ovarian cancer (Rattanasopha S et al. Eur. J. Hum. Genet. 2012 Oct;20:1058-62; Bodian DL et al. PLoS ONE. 2014 Apr;9:e94554; Maxwell KN et al. Am. J. Hum. Genet. 2016 May;98:801-817). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Sema4, |
RCV001012503 | SCV002538552 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-31 | criteria provided, single submitter | curation | |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153316 | SCV003843653 | likely pathogenic | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003485526 | SCV004235741 | uncertain significance | Idiopathic hypereosinophilic syndrome | 2023-04-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003944861 | SCV004762060 | uncertain significance | PDGFRA-related condition | 2023-12-19 | criteria provided, single submitter | clinical testing | The PDGFRA c.1631T>C variant is predicted to result in the amino acid substitution p.Val544Ala. This variant was reported in an individual with isolated cleft palate (Rattanasopha et al. 2012. PubMed ID: 22473090). This variant was also identified in a study of a healthy, ancestrally diverse cohort (Supplementary Table S1, Bodian et al. 2014. PubMed ID: 24728327) and was reported as a variant of uncertain significance in an analysis of variants identified in families affected by breast cancer (Supplementary Table S5, Maxwell et al. 2016. PubMed ID: 27153395). This variant is reported in 0.15% of alleles in individuals of East Asian descent in gnomAD, including two homozygote findings. This variant has conflicting interpretations of likely benign, uncertain significance in likely pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/39617/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
OMIM | RCV000032818 | SCV000056586 | uncertain significance | Isolated cleft palate | 2012-10-01 | no assertion criteria provided | literature only | |
ITMI | RCV000121781 | SCV000085979 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |