ClinVar Miner

Submissions for variant NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)

gnomAD frequency: 0.00012  dbSNP: rs864622513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543577 SCV000655558 benign Progressive myoclonic epilepsy type 8 2020-10-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323454 SCV004029327 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947670 SCV004764191 uncertain significance GDF1-related condition 2023-11-27 criteria provided, single submitter clinical testing The GDF1 c.925T>C variant is predicted to result in the amino acid substitution p.Ser309Pro. This variant, which was reported as p.S56P, has previously been identified in one individual with tetralogy of Fallot, aortic root dilation, and pulmonary valve stenosis and functional studies in zebrafish found a reduction in TGFβ signaling compared to controls (Karkera et al. 2007. PubMed ID: 17924340). This variant is reported in 0.57% of alleles in individuals of Latino descent in gnomAD; however, quality metrics at this site indicates the frequency estimate may not be reliable. 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.

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