ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) (rs181854060)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232812 SCV000289165 likely benign Gastrointestinal stromal tumor 2020-12-06 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.
OMIM RCV000032818 SCV000056586 uncertain significance Cleft palate, isolated 2012-10-01 no assertion criteria provided literature only
ITMI RCV000121781 SCV000085979 not provided not specified 2013-09-19 no assertion provided reference population

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